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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HADH Gene

protein-coding GIFtS: 63
GCID: GC04P108910

hydroxyacyl-CoA dehydrogenase

(Previous names: L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain,...)
(Previous symbol: HADHSC)

Explore 20 diseases affiliated with
HADH via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Hydroxyacyl-CoA Dehydrogenase¹ ²		HCDH² ³
HADHSC¹ ² ³ ⁵		EC 1.1.1.35³ ⁸
SCHAD¹ ² ³ ⁵		HHF4² ⁵
HADH1¹ ²		Hydroxyacyl-Coenzyme A Dehydrogenase¹
L-3-Hydroxyacyl-Coenzyme A Dehydrogenase, Short Chain¹ ²		MSCHAD²
Medium And Short-Chain L-3-Hydroxyacyl-Coenzyme A Dehydrogenase² ³		Hydroxyacyl-Coenzyme A Dehydrogenase, Mitochondrial²
Short-Chain 3-Hydroxyacyl-CoA Dehydrogenase² ³		EC 1.1.1⁸
HAD² ³

External Ids:	HGNC: 4799¹	Entrez Gene: 3033²	Ensembl: ENSG00000138796⁷	OMIM: 601609⁵	UniProtKB: Q16836³

Export aliases for HADH gene to outside databases

Previous GC identifers: GC07U990046 GC04P109130 GC04P104642

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HADH:

This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the

mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation

pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form

of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome

15. (provided by RefSeq, May 2010)

UniProtKB/Swiss-Prot: HCDH_HUMAN, Q16836

Function: Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest

activity toward 3-hydroxybutyryl-CoA

Gene Wiki entry for HADH (Hydroxyacyl-Coenzyme A dehydrogenase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000004.11 NC_018915.1 NT_016354.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HADH gene promoter:
SREBP-1a p300 c-Myb SREBP-1b YY1 C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HADH promoter sequence

Search SABiosciences Chromatin IP Primers for HADH

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HADH

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q22-q26 Ensembl cytogenetic band: 4q25 HGNC cytogenetic band: 4q22-q26

HADH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HADH gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04P108910: view genomic region (about GC identifiers)

Start:	108,910,870 bp from pter	End:	108,956,331 bp from pter
Size:	45,462 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HCDH_HUMAN, Q16836 (See protein sequence)

Recommended Name: Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial precursor

Size: 314 amino acids; 34294 Da

Subunit: Homodimer

Subcellular location: Mitochondrion matrix

6/12 PDB 3D structures from and Proteopedia for HADH (see all 12):

1F0Y (3D)

1F12 (3D)

1F14 (3D)

1F17 (3D)

1IL0 (3D)

1LSJ (3D)

Secondary accessions: O00324 O00397 O00753 Q4W5B4

Alternative splicing: 2 isoforms: Q16836-1 Q16836-2 (Ref.2 (AAB58153) sequence is in conflict in positions: 41:L->P, 56:R->H)

Explore the universe of human proteins at neXtProt for HADH: NX_Q16836

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q16836

4/7 DME Specific Peptides for HADH (Q16836) (see all 7)

ASNTSSL

HFFNPVP

PVMKLVEV

DLVVEAIVEN

HADH Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001171634.2 NP_005318.3

ENSEMBL proteins:

ENSP00000385638 ENSP00000312288 ENSP00000425254 ENSP00000425952 ENSP00000395167

Reactome Protein details: Q16836
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: HADH OriGene Protein Over-expression Lysate (see all 2): HADH OriGene Custom Protein Services for HADH
	GenScript Custom Purified and Recombinant Proteins Services for HADH
	Novus Biologicals HADH Proteins Novus Biologicals HADH Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for HADH
	Uscn Proteins for HADH

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005739	mitochondrion	IDA	--
GO:0005743	mitochondrial inner membrane	--	--

HADH for ontologies About GeneDecksing

HADH Antibody Products:

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	Novus Biologicals HADH Antibodies
	Search for Antibodies for HADH at Abcam
	Uscn Antibodies for HADH
	ThermoFisher Antibody for HADH

Assay Products for HADH:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for HADH
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for HADH

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HADH for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR008927 6-PGluconate_DH_C-like

IPR006108 3HC_DH_C

IPR013328 DH_multihelical

IPR006176 3-OHacyl-CoA_DH_NAD-bd

IPR006180 3-OHacyl-CoA_DH_CS

Graphical View of Domain Structure for InterPro Entry Q16836

ProtoNet protein and cluster: Q16836

2 Blocks protein families:

IPB006176 3-hydroxyacyl-CoA dehydrogenase

IPB006180 3-hydroxyacyl-CoA dehydrogenase

UniProtKB/Swiss-Prot: HCDH_HUMAN, Q16836

Similarity: Belongs to the 3-hydroxyacyl-CoA dehydrogenase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: HCDH_HUMAN, Q16836

Function: Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest

activity toward 3-hydroxybutyryl-CoA

Catalytic activity: (S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH

Enzyme Numbers (IUBMB): EC 1.1.1.35¹ ² EC 1.1.1²

miRNA Products:		miRTarBase miRNAs that target HADH: hsa-mir-124 (MIRT004893)

		OriGene 3'-UTR Clone: HADH Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HADH
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate HADH:
		hsa-miR-124 hsa-miR-593* hsa-miR-506
		SwitchGear 3'UTR luciferase reporter plasmid: HADH 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HADH (see all 7) OriGene shRNA RFP: HADH OriGene siRNA: HADH
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HADH

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for HADH

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HADH (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HADH (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): HADH (NM_001966)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HADH
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HADH

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for HADH
		Search LifeMap BioReagents cell lines for HADH

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HADH

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	TAS	--
GO:0070403	NAD+ binding	IEA	--

HADH for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Hadh^tm1Csta for HADH
     6 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Hadh):

adipose tissue	cellular	endocrine/exocrine gland	growth/size	homeostasis/metabolism
renal/urinary system

HADH for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA

Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA	1.00	mitochondrial fatty acid beta-oxidation of saturated fatty acids	0.62
Beta oxidation of hexanoyl-CoA to butanoyl-CoA	0.67	Fatty acid elongation in mitochondria	0.44
Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA	0.67	Beta oxidation of butanoyl-CoA to acetyl-CoA	0.33
Beta oxidation of octanoyl-CoA to hexanoyl-CoA	0.67	Mitochondrial Fatty Acid Beta-Oxidation	0.33

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Fatty Acid Beta Oxidation

	Fatty Acid Beta Oxidation	1.00			Fatty acid metabolism	0.32
	Mitochondrial LC-Fatty Acid Beta-Oxidation	0.35

Tryptophan metabolism

Tryptophan metabolism

1.00

Tryptophan metabolism

0.47

Fatty Acid Biosynthesis

Fatty Acid Biosynthesis

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/6 BioSystems Pathways for HADH (see all 6)

	fatty acid beta-oxidation I
	Fatty Acid Beta Oxidation
	Mitochondrial LC-Fatty Acid Beta-Oxidation
	FOXA2 and FOXA3 transcription factor networks
	Tryptophan metabolism

5/10 Reactome Pathways for HADH (see all 10)

	mitochondrial fatty acid beta-oxidation of saturated fatty acids
	Metabolism
	Beta oxidation of hexanoyl-CoA to butanoyl-CoA
	Beta oxidation of butanoyl-CoA to acetyl-CoA
	Fatty acid, triacylglycerol, and ketone body metabolism

5/7 Kegg Pathways (Kegg details for HADH) (see all 7):

	Fatty acid elongation in mitochondria
	Fatty acid metabolism
	Valine, leucine and isoleucine degradation
	Lysine degradation
	Tryptophan metabolism

UniProtKB/Swiss-Prot: HCDH_HUMAN, Q16836

Pathway: Lipid metabolism; fatty acid beta-oxidation

HADH for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for HADH

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/38 Interacting proteins for HADH (Q16836³ ENSP00000312288⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 38)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBA5	Q9GZZ9³, ENSP00000348565⁴	I2D: score=3 STRING: ENSP00000348565
SLC2A4	P14672³, ENSP00000320935⁴	I2D: score=2 STRING: ENSP00000320935
GBAS	O75323³, ENSP00000313050⁴	I2D: score=1 STRING: ENSP00000313050
DDA1	Q9BW61³, ENSP00000352928⁴	I2D: score=1 STRING: ENSP00000352928
PRKAG2	Q9UGJ0³	I2D: score=1

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006631	fatty acid metabolic process	--	--
GO:0006635	fatty acid beta-oxidation	TAS	--
GO:0009725	response to hormone stimulus	--	--
GO:0014823	response to activity	--	--
GO:0032868	response to insulin stimulus	--	--

HADH for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

HADH for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HADH

10/26 HMDB Compounds for HADH (see all 26) About this table

Compound	Synonyms	CAS #	PubMed Ids
(3S)-3-Hydroxyadipyl-CoA	(3S)-3-Hydroxyadipyl-CoEnzyme A	--	--
(S)-3-Hydroxydodecanoyl-CoA	(S)-3-hydroxydodecanoyl-coenzyme A	72059-49-5	--
(S)-3-Hydroxyhexadecanoyl-CoA	(S)-3-hydroxyhexadecanoyl-coenzyme A (see all 14)	35106-50-4	--
(S)-3-Hydroxytetradecanoyl-CoA	(S)-3-Hydroxytetradecanoyl-Coenzyme A. (see all 2)	--	--
(S)-3-hydroxypalmitoleoyl-CoA	(S)-3-hydroxyhexadeca-9Z-enoyl-CoA (see all 4)	--	--
(S)-Hydroxydecanoyl-CoA	S-(3-hydroxydecanoate) Coenzyme A (see all 16)	6245-70-1	--
(S)-Hydroxyhexanoyl-CoA	[R,S]-Lactyl CoA (see all 8)	74875-70-0	--
(S)-Hydroxyoctanoyl-CoA	(S)-3-Hydroxyoctanoyl-CoA (see all 2)	79171-48-5	--
(S)-Methylmalonic acid semialdehyde	(S)-Methylmalonate semialdehyde (see all 3)	99043-16-0	--
16,18-Oxo-18-CoA-dinor-LTE4	CoA-18-COOH-16-oxo-dinor-LTE(,4) (see all 2)	--	--

4 DrugBank Compounds for HADH About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Nicotinamide-Adenine-Dinucleotide	--	53-84-9	target	--	17139284 17016423 10592235
3-Hydroxybutyryl-Coenzyme A	--	--	target	--	17139284 17016423
Acetoacetyl-Coenzyme A	--	1420-36-6	target	--	17139284 17016423
NADH	beta-DPNH (see all 18)	606-68-8	target	--	17202348

10 Novoseek chemical compound relationships for HADH gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
fatty acid	60.9	10	9716664 (1), 14641012 (1), 17065362 (1), 17491019 (1) (see all 7)
acyl-coa	58	2	15347768 (1), 17442290 (1)
katp	55.3	2	17185391 (1)
diazoxide	51.1	1	17185391 (1)
nad+	44.6	4	10231530 (3), 10548046 (1)
glutamate	36.8	4	18156285 (1), 14981344 (1), 15640549 (1), 19411227 (1)
carnitine	35.7	1	17442290 (1)
nadh	26.1	2	10231530 (2)
glucose	24.3	3	17491019 (2)
leucine	18.5	1	11489939 (1)

Search CenterWatch for drugs/clinical trials and news about HADH / HCDH

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HADH gene (2 alternative transcripts):

NM_001184705.2 NM_005327.4

Unigene Cluster for HADH:

Hydroxyacyl-CoA dehydrogenase

Hs.438289 [show with all ESTs]

Unigene Representative Sequence: NM_001184705

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000403312(uc010ilx.3 uc003hyq.3) ENST00000309522 ENST00000511742

ENST00000505878 ENST00000507260 ENST00000510728 ENST00000515462 ENST00000514776

ENST00000454409(uc003hyr.3)

miRNA Products:		OriGene 3'-UTR Clone: HADH Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HADH
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate HADH:
		hsa-miR-124 hsa-miR-593* hsa-miR-506
		SwitchGear 3'UTR luciferase reporter plasmid: HADH 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HADH (see all 7) OriGene shRNA RFP: HADH OriGene siRNA: HADH
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HADH

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HADH (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HADH (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): HADH (NM_001966)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HADH
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HADH

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HADH Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat HADH
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HADH
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HADH

Additional cDNA sequence:

AF001902.1 AF001903.1 AK096018.1 AK314444.1 BC000306.2 X96752.1

12 DOTS entries:

DT.454550 DT.97770815 DT.95127733 DT.217941 DT.100817974 DT.95127731 DT.100817977 DT.121276237

DT.121276268 DT.100817983 DT.121276253 DT.97803912

24/340 AceView cDNA sequences (see all 340):

CB159112 BM312222 BQ009194 BG740540 AI089645 CR591982 AI866963 AI625958

BM905927 CB216880 BX281709 AI346992 BM756258 BM512492 BM672086 BM783994

BQ267850 AA928499 AA857901 AI095852 BM676252 AA902383 BM770185 BI224021

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for HADH (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	^	3	^	4	^	5a	·	5b	^	6a	·	6b	^	7	^	8a	·	8b	^	9	^	10	^	11a	·	11b
SP1:									-		-		-																-
SP2:													-																-		-
SP3:									-		-		-																-		-
SP4:									-				-
SP5:

ECgene alternative splicing isoforms for HADH

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HADH expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGAAATCACT

About this image

HADH expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lung

Trachea

Lung

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See HADH Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HADH

SOURCE GeneReport for Unigene cluster: Hs.438289

UniProtKB/Swiss-Prot: HCDH_HUMAN, Q16836

Tissue specificity: Expressed in liver, kidney, pancreas, heart and skeletal muscle

SABiosciences Expression via Pathway-Focused PCR Array including HADH:

Amino Acid Metabolism II in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HADH Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat HADH
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HADH
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HADH

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HADH

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for HADH gene from 9/29 species (see all 29) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Hadh^{1 , 5}	hydroxyacyl-Coenzyme A dehydrogenase^{1, 5}	84.93(n)¹ 90.13(a)¹		3 (60.86 cM)⁵ 15107¹ NM_008212.3¹ NP_032238.2¹ 131233419⁵
chicken (Gallus gallus)	Aves	HADH¹	hydroxyacyl-CoA dehydrogenase	75.93(n) 78.27(a)		420290 XM_418403.3 XP_418403.2
lizard (Anolis carolinensis)	Reptilia	HADH⁶	--	80(a)	1 ↔ 1	GL343384.1(299225-313941)
African clawed frog (Xenopus laevis)	Amphibia	hadhsc-prov²	L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain	77.67(n)		BC056108.1
zebrafish (Danio rerio)	Actinopterygii	wufb66a11²	wufb66a11	73.81(n)		322574 CK024612.1
worm (Caenorhabditis elegans)	Secernentea	B0272.3¹	Protein B0272.3	56.22(n) 55.45(a)		181169 NM_077183.4 NP_509584.1
thale cress (Arabidopsis thaliana)	eudicotyledons	AT3G15290¹	3-hydroxybutyryl-CoA dehydrogenase	47.21(n) 41.28(a)		820760 NM_112392.3 NP_188147.1
rice (Oryza sativa)	Liliopsida	Os01g0796400¹	hypothetical protein	48.24(n) 44.37(a)		4325632 NM_001051050.1 NP_001044515.1
E. coli (Escherichia coli)	Gamma proteobacteria	paaH⁶	3-hydroxyadipyl-CoA dehydrogenase, NAD+-dependent	25(a)	1 ↔ 1	Chromosome(1457078-1458505)

ENSEMBL Gene Tree for HADH (if available)
TreeFam Gene Tree for HADH (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for HADH gene

ECHDC2² EHHADH² AUH² ECH1² ECHDC3² HADHA² ECHS1² ECHDC1²

HADH for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for HADH
PGOHUM00000246794

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for HADH
1 CNV: 2538
Human Gene Mutation Database (HGMD): HADH

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HADH

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

HADH for disorders           About GeneDecksing

OMIM gene information: 601609
OMIM disorders: 231530  609975
UniProtKB/Swiss-Prot: HCDH_HUMAN, Q16836

Defects in HADH are the cause of 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency)

[MIM:231530]. HADH deficiency is a metabolic disorder with various clinical presentations including hypoglycemia,

hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death

Defects in HADH are the cause of familial hyperinsulinemic hypoglycemia type 4 (HHF4) [MIM:609975]; also known

as persistent hyperinsulinemic hypoglycemia of infancy (PHHI) or congenital hyperinsulinism. HHF is the most common

cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion

by low glucose levels. It causes nesidioblastosis, a diffuse abnormality of the pancreas in which there is extensive,

often disorganized formation of new islets. Unless early and aggressive intervention is undertaken, brain damage from

recurrent episodes of hypoglycemia may occur. HHF4 should be easily recognizable by analysis of acylcarnitine species

and that this disorder responds well to treatment with diazoxide. It provides the first 'experiment of nature' that

links impaired fatty acid oxidation to hyperinsulinism and that provides support for the concept that a lipid

signaling pathway is implicated in the control of insulin secretion

20 diseases for HADH: About MalaCards

hyperinsulinemic hypoglycemia 3-hydroxyacyl-coenzyme a dehydrogenase deficiency 3-alpha hydroxyacyl-coa dehydrogenase deficiency 3-hydroxyacyl-coa dehydrogenase deficiency

hypoglycemia hyperinsulinemic hypoglycemia, familial, 4 persistent hyperinsulinemic hypoglycemia of infancy hypoglycemia of infancy

hyperinsulinism alcohol dependence zellweger syndrome hellp syndrome

metabolic disorders adrenoleukodystrophy protein s deficiency alcoholism

myopathy tuberculosis hepatitis mycobacterium tuberculosis

3 diseases from the University of Copenhagen DISEASES database for HADH:

Hyperinsulinism Hyperinsulinemic hypoglycemia Hypoglycemia

3 Novoseek disease relationships for HADH gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hyperinsulinism	87	8	14641012 (1), 18156285 (1), 17065362 (1), 17185391 (1) (see all 7)
hypoglycemia	65.9	3	17491019 (2), 14693719 (1)
enzyme deficiency	55.2	1	8795843 (1)

GeneTests: HADH

Familial Hyperinsulinism

Human Genome Epidemiology (HuGE) Navigator: HADH (3 documents)

Export disorders for HADH gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for HADH gene, integrated from 9 sources (see all 68):
(articles sorted by number of sources associating them with HADH)

Utopia: connect your pdf to the dynamic
world of online information

3-hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease. (PubMed id 16176262)^{1, 2, 3, 9} Yang S.-Y.... Schulz H. (2005)
Biochemical characterization and crystal structure determination of human heart short chain L-3-hydroxyacyl-CoA dehydrogenase provide insights into catalytic mechanism. (PubMed id 10231530)^{1, 2, 9} Barycki J.J.... Banaszak L.J. (1999)
Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence. (PubMed id 8687463)^{1, 2, 9} Vredendaal P.J.C.M.... Berger R. (1996)
Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. (PubMed id 11489939)^{1, 2, 9} Clayton P.T....van den Berg I.E.T. (2001)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Sequestration of the active site by interdomain shifting. Crystallographic and spectroscopic evidence for distinct conformations of L-3-hydroxyacyl-CoA dehydrogenase. (PubMed id 10840044)^{1, 2} Barycki J.J.... Banaszak L.J. (2000)
A preliminary analysis of the segregation of human hydroxyacyl coenzyme A dehydrogenase in human-mouse somatic cell hybrids. (PubMed id 975867)^{1, 3} Craig I....Bobrow M. (1976)
The HADHSC gene encoding short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) and type 2 diabetes susceptibility: the DAMAGE study. (PubMed id 17065362)^{1, 9} van Hove E.C....'t Hart L.M. (2006)
Structural organization of the human short-chain L-3-hydroxyacyl-CoA dehydrogenase gene. (PubMed id 9716664)^{1, 9} Vredendaal P.J....Berger R. (1998)
Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation. (PubMed id 10347277)^{1, 9} Bennett M.J....Wanders R.J. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3033	HGNC: 4799	AceView: HADHSC	Ensembl:ENSG00000138796	euGenes: HUgn3033
ECgene: HADH	Kegg: 3033	H-InvDB: HADH

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for HADH	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HADH

Intellectual Property for HADH gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for HADH gene:
Search GeneIP for patents involving HADH

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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