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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GCDH Gene

protein-coding GIFtS: 62
GCID: GC19P013001

glutaryl-CoA dehydrogenase

(Previous name: glutaryl-Coenzyme A dehydrogenase )

Explore 21 diseases affiliated with
GCDH 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
Glutaryl-CoA Dehydrogenase¹ ²		Glutaryl-CoA Dehydrogenase, Mitochondrial²
ACAD5¹ ²		EC 1.3.8.6³
Glutaryl-Coenzyme A Dehydrogenase¹ ²		EC 1.3.99⁸
GCD² ³		EC 1.3.99.7⁸

External Ids:	HGNC: 4189¹	Entrez Gene: 2639²	Ensembl: ENSG00000105607⁷	OMIM: 608801⁵	UniProtKB: Q92947³

Export aliases for GCDH gene to outside databases

Previous GC identifers: GC19P013133 GC19P013224 GC19P012847 GC19P012862 GC19P012863 GC19P012573

(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 GCDH:

The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative

decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and

L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the

mitochondrial matrix as a homotetramer of 45-kD subunits. Alternatively spliced transcript variants encoding different

isoforms have been identified. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: GCDH_HUMAN, Q92947

Function: Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway

of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron

acceptor. Isoform Short is inactive

(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_000019.9 NC_018930.1 NT_011295.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GCDH gene promoter:
AML1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GCDH promoter sequence

Search SABiosciences Chromatin IP Primers for GCDH

Epigenetics:

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

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

Entrez Gene cytogenetic band: 19p13.2 Ensembl cytogenetic band: 19p13.2 HGNC cytogenetic band: 19p13.2

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

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P013001: view genomic region (about GC identifiers)

Start:	13,001,840 bp from pter	End:	13,025,021 bp from pter
Size:	23,182 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: GCDH_HUMAN, Q92947 (See protein sequence)

Recommended Name: Glutaryl-CoA dehydrogenase, mitochondrial precursor

Size: 438 amino acids; 48127 Da

Cofactor: FAD

Subunit: Homotetramer

Subcellular location: Mitochondrion matrix

4 PDB 3D structures from and Proteopedia for GCDH:

1SIQ (3D)

1SIR (3D)

2R0M (3D)

2R0N (3D)

Secondary accessions: A8K2Z2 O14719

Alternative splicing: 2 isoforms: Q92947-1 Q92947-2

Explore the universe of human proteins at neXtProt for GCDH: NX_Q92947

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q92947

4/9 DME Specific Peptides for GCDH (Q92947) (see all 9)

FGLTEPN

VWARCED

VNTYEGTHD

PIYAYGSEEQ

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

REFSEQ proteins (2 alternative transcripts):

NP_000150.1 NP_039663.1

ENSEMBL proteins:

ENSP00000222214 ENSP00000465618 ENSP00000466845 ENSP00000468125 ENSP00000468452

ENSP00000465770 ENSP00000468584 ENSP00000468625 ENSP00000467735 ENSP00000394872

ENSP00000394821

Reactome Protein details: Q92947
Human Recombinant Protein Products:

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Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	TAS	8541831
GO:0005743	mitochondrial inner membrane	IEA	--
GO:0005759	mitochondrial matrix	TAS	--

GCDH for ontologies About GeneDecksing

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

GCDH for domains About GeneDecksing

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

IPR006090 Acyl-CoA_Oxase/DH_1

IPR013786 AcylCoA_DH/ox_N

IPR006091 Acyl-CoA_Oxase/DH_cen-dom

IPR006089 Acyl-CoA_DH_CS

IPR009100 AcylCoA_DH/oxidase

Graphical View of Domain Structure for InterPro Entry Q92947

ProtoNet protein and cluster: Q92947

1 Blocks protein family: IPB006089 Acyl-CoA dehydrogenase

UniProtKB/Swiss-Prot: GCDH_HUMAN, Q92947

Similarity: Belongs to the acyl-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: GCDH_HUMAN, Q92947

Function: Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway

of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron

acceptor. Isoform Short is inactive

Catalytic activity: Glutaryl-CoA + electron-transfer flavoprotein = (E)-but-2-enoyl-CoA + CO(2) + reduced

electron-transfer flavoprotein

Genatlas biochemistry entry for GCDH:

glutaryl-CoA dehydrogenase,flavoprotein dependent,mitochondrial matrix,lysine oxidation

Enzyme Numbers (IUBMB): EC 1.3.99.7² EC 1.3.99² EC 1.3.8.6¹

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		hsa-miR-124 hsa-miR-506
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GCDH

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000062	fatty-acyl-CoA binding	IEA	--
GO:0003995	acyl-CoA dehydrogenase activity	--	--
GO:0004361	glutaryl-CoA dehydrogenase activity	EXP	--
GO:0050660	flavin adenine dinucleotide binding	IEA	--

GCDH for ontologies About GeneDecksing

Animal Models:
4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Gcdh):

behavior/neurological

homeostasis/metabolism

nervous system

renal/urinary system

GCDH 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 - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

tryptophan degradation III (eukaryotic)

tryptophan degradation III (eukaryotic)

1.00

glutaryl-CoA degradation

0.45

Fatty Acid Beta Oxidation

Fatty Acid Beta Oxidation

1.00

Fatty acid metabolism

0.32

Tryptophan metabolism

Tryptophan metabolism

1.00

Tryptophan metabolism

0.47

Metabolism of amino acids and derivatives

Metabolism of amino acids and derivatives

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

4 BioSystems Pathways for GCDH

	glutaryl-CoA degradation
	Fatty Acid Beta Oxidation
	Tryptophan metabolism
	tryptophan degradation III (eukaryotic)

3 Reactome Pathways for GCDH

	Lysine catabolism
	Metabolism
	Metabolism of amino acids and derivatives

4 Kegg Pathways (Kegg details for GCDH):

	Fatty acid metabolism
	Lysine degradation
	Tryptophan metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: GCDH_HUMAN, Q92947

Pathway: Amino-acid metabolism; lysine degradation

Pathway: Amino-acid metabolism; tryptophan metabolism

GCDH for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for GCDH

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

5/32 Interacting proteins for GCDH (Q92947^{1, 3} ENSP00000222214⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 32)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NOS3	P29474¹^,³	EBI-1236978,EBI-1391623 I2D: score=1
PSEN1	P49768¹^,³	EBI-1236978,EBI-297277 I2D: score=1
GRB2	P62993¹^,³, ENSP00000339007⁴	EBI-1236978,EBI-401755 I2D: score=1 STRING: ENSP00000339007
MYC	P01106³, ENSP00000367207⁴	I2D: score=3 STRING: ENSP00000367207
ECSIT	Q9BQ95³, ENSP00000270517⁴	I2D: score=1 STRING: ENSP00000270517

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006554	lysine catabolic process	TAS	--
GO:0006568	tryptophan metabolic process	IEA	--
GO:0006637	acyl-CoA metabolic process	--	--
GO:0019395	fatty acid oxidation	IEA	--
GO:0034641	cellular nitrogen compound metabolic process	TAS	--

GCDH 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

GCDH for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for GCDH

10/36 HMDB Compounds for GCDH (see all 36) About this table

Compound	Synonyms	CAS #	PubMed Ids
(2E)-Decenoyl-CoA	(E)-S-2-decenoate Coenzyme A (see all 15)	10018-95-8	--
(2E)-Dodecenoyl-CoA	2-trans-Dodecenoyl-Coenzyme A (see all 4)	1066-12-2	--
(2E)-Hexadecenoyl-CoA	trans-2-Hexadecenoyl-CoA (see all 4)	4460-95-1	--
(2E)-Octenoyl-CoA	(E)-S-2-octenoate Coenzyme A (see all 16)	10018-94-7	--
(2E)-Tetradecenoyl-CoA	(2E)-Tetradecenoyl-Coenzyme A (see all 8)	38795-33-4	--
2-Methylbutyryl-CoA	2-methylbutanoyl-CoA (see all 11)	6712-02-3	--
2-Methylhexanoyl-CoA	2-Methylhexanoyl-CoEnzyme A (see all 5)	--	--
3Z-dodecenoyl-CoA	S-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)	2152-91-2	--
Acetyl-CoA	S-Acetyl coenzyme A (see all 13)	72-89-9	--
Acrylyl-CoA	Acryloyl coenzyme A (see all 14)	5776-58-9	--

2 DrugBank Compounds for GCDH About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Flavin-Adenine Dinucleotide	--	146-14-5	target	--	17139284 17016423
S-4-Nitrobutyryl-Coa	--	--	target	--	17139284 17016423

10 Novoseek chemical compound relationships for GCDH gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
3-hydroxyglutaric acid	97.8	3	14598231 (1), 17356845 (1), 18775954 (1)
glutaric acid	95.4	10	11854167 (1), 14598231 (1), 17356845 (1), 15505389 (1) (see all 7)
glutarylcarnitine	95.3	1	14598231 (1)
glutaconic acid	92.2	1	15505389 (1)
glutaryl-coa	90.2	2	12473778 (1), 16377226 (1)
hydroxylysine	81.5	6	17879145 (1), 16466958 (1), 16641220 (1), 9600243 (1) (see all 5)
carnitine	68.7	1	17957492 (1)
acyl-coa	58.8	5	17176108 (1), 10960496 (1)
lysine	49.6	6	16446282 (1), 16466958 (1), 9633984 (1), 9600243 (1) (see all 5)
riboflavin	43	2	16377226 (2)

Search CenterWatch for drugs/clinical trials and news about GCDH

(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,
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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 GCDH gene (2 alternative transcripts):

NM_000159.2 NM_013976.2

Unigene Cluster for GCDH:

Glutaryl-CoA dehydrogenase

Hs.532699 [show with all ESTs]

Unigene Representative Sequence: AK296446

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

ENST00000222214(uc002mvq.3 uc010xmt.2) ENST00000589039 ENST00000421816(uc010xms.2)

ENST00000591470 ENST00000590445 ENST00000590530 ENST00000588905 ENST00000587072

ENST00000590627 ENST00000587832 ENST00000585420 ENST00000585760 ENST00000591043

ENST00000590472 ENST00000591050 ENST00000588242 ENST00000457854(uc002mvp.3)

ENST00000422947(uc010xmu.2)

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Additional cDNA sequence:

AK098370.1 AK290407.1 AK296446.1 AK298772.1 AK300841.1 AK309892.1 BC002579.2 BT006706.1

U69141.1

14 DOTS entries:

DT.415866 DT.100773302 DT.121410645 DT.121410639 DT.95088952 DT.100757337 DT.40132113 DT.100700204

DT.100829507 DT.121410591 DT.92434797 DT.95088957 DT.100843711 DT.99959158

24/225 AceView cDNA sequences (see all 225):

AI307154 CR626122 BG392199 CR610003 BM825641 BM818774 AU118972 Z41427

AW615668 BX090910 NM_013976 AA322355 BI755368 BU527096 BM831180 BI754921

CR618805 AL556054 BI755257 AU076472 BF062558 CR591108 BE254722 BM823186

GeneLoc Exon Structure

(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

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

About this image
See GCDH Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GCDH

SOURCE GeneReport for Unigene cluster: Hs.532699

UniProtKB/Swiss-Prot: GCDH_HUMAN, Q92947

Tissue specificity: Isoform 1 and isoform 2 are expressed in fibroblasts and liver

SABiosciences Expression via Pathway-Focused PCR Arrays including GCDH:

Fatty Acid Metabolism in human mouse rat

Amino Acid Metabolism II in human mouse rat

Amino Acid Metabolism I in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

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In Situ
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(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 common ancestor of eukaryotes.

Orthologs for GCDH gene from 9/31 species (see all 31) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Gcdh^{1 , 5}	glutaryl-Coenzyme A dehydrogenase^{1, 5}	83.52(n)¹ 87.59(a)¹		8 (41.28 cM)⁵ 270076¹ NM_001044744.1¹ NP_001038209.2¹ 84886393⁵
chicken (Gallus gallus)	Aves	LOC771098¹	glutaryl-CoA dehydrogenase, mitochondrial-like	79.06(n) 82.3(a)		771098 XM_001231725.2 XP_001231726.2
lizard (Anolis carolinensis)	Reptilia	GCDH⁶	--	82(a)	1 ↔ 1	2(27707606-27717396)
African clawed frog (Xenopus laevis)	Amphibia	Xl.6713²	Xenopus laevis transcribed sequence with weak similarity more	74.17(n)		BX852732.1
zebrafish (Danio rerio)	Actinopterygii	zgc77704²	hypothetical protein MGC77704	77.79(n)		393860 BC063972.1
fruit fly (Drosophila melanogaster)	Insecta	CG9547^{1 , 3}	glutaryl-CoA dehydrogenase³ CG9547¹	68(a)³ 65.33(n)¹ 69.25(a)¹		26D9³ 33911¹ NM_135196.2¹ NP_609040.1¹
worm (Caenorhabditis elegans)	Secernentea	F54D5.7³ CELE_F54D5.7¹	acyl-CoA dehydrogenase³ Protein F54D5.7¹	64(a)³ 61.39(n)¹ 64.42(a)¹		II(11547428-11549088)³ 174768¹ NM_064068.4¹ NP_496469.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	ATSCX⁶	acyl-coenzyme A oxidase 4	33(a)	1 ↔ 1	3(19225360-19229163)
rice (Oryza sativa)	Liliopsida	-- -- (see all 3)	glutaryl-CoA dehydrogenase, mitochondrial precurso... acyl-coenzyme A dehydrogenase, mitochondrial precu... (see all 3)	35(a) 33(a) (see all 3)	possible ortholog possible ortholog (see all 3)	1(3107117-3112963) 5(3730289-3735218)

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

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

Paralogs for GCDH gene

ACADL² ACAD8² ACADSB² ACAD11² ACADS² ACAD9² ACAD10² ACADM²

IVD² ACADVL²

18/56 SIMAP similar genes for GCDH using alignment to 11 protein entries: GCDH_HUMAN (see all proteins) (see all similar genes):

WARS APOPT1 SH2B3 SNRPF TUBA1C C12orf76

CHID1 DCTN5 pp12301 LYRM4 MST132 FLJ00047

NF2 COQ5 ZNF564 LINC00596 RNF217 CRCP

GCDH for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for GCDH
PGOHUM00000258685

(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

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121434369^1,2	C,F	pathogenic	15970535(+)	`TGATCC/TGGCAC`	4	R W	mis¹		1		NA	4540
rs121434371^1,2	C	pathogenic	15971425(+)	`ACAACG/ACCCGG`	4	/T /A	mis¹		1		NA	4546
rs118109255^1,2	C,F,	--	12571905(+)	`NNNNAT/CGCACA`	2	--	us2k¹		1		NA	120
rs187078221^1,2	C,	--	12572585(+)	`CCACCA/GGTCAC`	2	--	us2k¹		0	--	--	--	--
rs112377373^1,2	C	--	12573265(+)	`AAAACC/AACCAC`	2	--	us2k¹		1		CSA	2
rs112667547^1,2	C,	--	12573267(+)	`AACAAC/-ACCAC`	2	--	us2k¹		1		CSA	2
rs35594407^1,2	C,	--	12573325(+)	`CACAG-/ACACACA`	2	--	us2k¹		0	--	--	--	--
rs76650855^1,2	C,	--	12574432(+)	`GTTGGG/TGGGTA`	2	--	int¹		1		WA	2
rs58971437^1,2	C,F,	--	12574979(+)	`CCTTTC/ATTCTT`	2	--	int¹		3		WA CSA	122
rs73505322^1,2	C,F,	--	12575543(+)	`CCACCG/ATTGCC`	2	--	int¹		3		WA CSA	122

HapMap Linkage Disequilibrium report for GCDH (13001840 - 13025021 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for GCDH
1 CNV: 4400
Human Gene Mutation Database (HGMD): GCDH

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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

GCDH for disorders           About GeneDecksing

OMIM gene information: 608801
OMIM disorders: 231670
UniProtKB/Swiss-Prot: GCDH_HUMAN, Q92947

Defects in GCDH are the cause of glutaric aciduria type 1 (GA1) [MIM:231670]. GA1 is an autosomal recessive

metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal

ganglia

20/21 diseases for GCDH (see all 21): About MalaCards

acyl-coa dehydrogenase 2-hydroxyglutaric aciduria l-2-hydroxyglutaric aciduria d-2-hydroxyglutaric aciduria

glutaric acidemia type i glutaricaciduria corneal granular dystrophy striatal degeneration

athetosis corneal dystrophy neurodegenerative disease cerebral palsy

metabolic disorders gliosis breast cyst neurodegeneration

neurologic diseases cerebritis colorectal cancer tuberculosis

1 disease from the University of Copenhagen DISEASES database for GCDH:

Corneal dystrophy

6 Novoseek disease relationships for GCDH gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
encephalopathy acute	74.7	1	11174631 (1)
encephalopathy	34.8	1	1956737 (1)
neurological disorders	32.4	3	17957492 (2), 15505395 (1)
neurodegeneration	31.2	3	10960496 (1), 10649503 (1), 15318278 (1)
cell damage	9.75	1	15505386 (1)
neurodegenerative diseases	0.722	1	7490088 (1)

Genetic Association Database (GAD): GCDH
Human Genome Epidemiology (HuGE) Navigator: GCDH (4 documents)

Export disorders for GCDH 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 GCDH gene, integrated from 9 sources (see all 99):
(articles sorted by number of sources associating them with GCDH)

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

Pork and human cDNAs encoding glutaryl-CoA dehydrogenase. (PubMed id 1438360)^{1, 2, 3} Goodman S.I.... Frerman F.E. (1992)
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). (PubMed id 18775954)^{1, 2, 9} Keyser B.... Braulke T. (2008)
Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. (PubMed id 8900227)^{1, 2, 9} Biery B.J.... Goodman S.I. (1996)
Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: structural bases of dehydrogenation and decarboxylation reactions. (PubMed id 15274622)^{1, 2, 9} Fu Z.... Kim J.-J.P. (2004)
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. (PubMed id 9600243)^{1, 2, 9} Schwartz M.... Brandt N.J. (1998)
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations. (PubMed id 9711871)^{1, 2, 9} Goodman S.I.... Elpeleg O.N. (1998)
Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridization and somatic cell hybrid analysis. (PubMed id 8088809)^{1, 3, 9} Greenberg C.R....Goodman S.I. (1994)
The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)^{1, 2} Grimwood J.... Lucas S.M. (2004)
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)
Glutaric aciduria type I in the Arab and Jewish communities in Israel. (PubMed id 8900228)^{1, 2} Anikster Y.... Elpeleg O.N. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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: 2639	HGNC: 4189	AceView: GCDH	Ensembl:ENSG00000105607	euGenes: HUgn2639
ECgene: GCDH	Kegg: 2639	H-InvDB: GCDH

(According to HUGE)
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(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 GCDH	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GCDH

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

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

GeneCards and IP:
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