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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DHH Gene

protein-coding GIFtS: 63
GCID: GC12M049483

desert hedgehog

(Previous name: desert hedgehog (Drosophila) homolog )

Explore 15 diseases affiliated with
DHH 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
Desert Hedgehog¹ ²		SRXY7²
HHG-3¹ ² ³		Desert Hedgehog Homolog²
MGC35145¹		Desert Hedgehog Protein²
Desert Hedgehog (Drosophila) Homolog¹		Mutant Desert Hedgehog²
GDXYM²

External Ids:	HGNC: 2865¹	Entrez Gene: 50846²	Ensembl: ENSG00000139549⁷	OMIM: 605423⁵	UniProtKB: O43323³

Export aliases for DHH gene to outside databases

Previous GC identifers: GC12P049326 GC12M049199 GC12M047769 GC12M046514

(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 DHH:

This gene encodes a member of the hedgehog family. The hedgehog gene family encodes signaling molecules that play an

important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is

autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal

portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a

cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it

from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal

dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal

differentiation and perineurial development. (provided by RefSeq, May 2010)

UniProtKB/Swiss-Prot: DHH_HUMAN, O43323

Function: Intercellular signal essential for a variety of patterning events during development. May function as a

spermatocyte survival factor in the testes. Essential for testes development

Gene Wiki entry for DHH (Desert hedgehog protein)

(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_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DHH gene promoter:
C/EBPbeta Pax-5 FOXD1 Egr-4 FOXL1 Roaz Max Zic1 Pax-4a c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DHH promoter sequence

Search SABiosciences Chromatin IP Primers for DHH

Epigenetics:

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

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

Entrez Gene cytogenetic band: 12q13.1 Ensembl cytogenetic band: 12q13.12 HGNC cytogenetic band: 12q13.1

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

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M049483: view genomic region (about GC identifiers)

Start:	49,483,204 bp from pter	End:	49,488,602 bp from pter
Size:	5,399 bases	Orientation:	minus 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: DHH_HUMAN, O43323 (See protein sequence)

Recommended Name: Desert hedgehog protein precursor

Size: 396 amino acids; 43577 Da

Subcellular location: Desert hedgehog protein N-product: Cell membrane; Lipid-anchor; Extracellular side (By

similarity). Note=The N-terminal peptide remains associated with the cell surface (By similarity)

Subcellular location: Desert hedgehog protein C-product: Secreted, extracellular space (By similarity). Note=The

C-terminal peptide diffuses from the cell (By similarity)

5 PDB 3D structures from and Proteopedia for DHH:

2WFQ (3D)

2WFR (3D)

2WG3 (3D)

3N1G (3D)

3N1Q (3D)

Secondary accessions: Q15794

Explore the universe of human proteins at neXtProt for DHH: NX_O43323

Post-translational modifications:

The C-terminal domain displays an autoproteolysis activity and a cholesterol transferase activity. Both activities

result in the cleavage of the full-length protein and covalent attachment of a cholesterol moiety to the C-terminal of

the newly generated N-terminal fragment (N-product). This covalent modification appears to play an essential role in

restricting the spatial distribution of the protein activity to the cell surface. The N-product is the active species

in both local and long-range signaling, whereas the C-product has no signaling activity (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O43323

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

REFSEQ proteins: NP_066382.1

ENSEMBL proteins:

ENSP00000266991

Human Recombinant Protein Products:

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	Novus Biologicals DHH Proteins Novus Biologicals DHH Lysate
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for DHH
	Uscn Proteins for DHH

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005615	extracellular space	IEA	--
GO:0005886	plasma membrane	IEA	--

DHH for ontologies About GeneDecksing

DHH Antibody Products:

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	Uscn ELISAs and CLIAs for DHH

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

DHH for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR009045 Hedgehog_sig/DD-Pept_Zn-bd_dom

IPR000320 Hedgehog_signaling_dom

IPR001767 Hint_dom

IPR003587 Hint_dom_N

IPR001657 Hedgehog

Graphical View of Domain Structure for InterPro Entry O43323

ProtoNet protein and cluster: O43323

5 Blocks protein families:

IPB000320 Hedgehog amino-terminal signaling domain

IPB001657 Sonic hedgehog protein signature

IPB001767 Hedgehog protein

IPB003586 Hedgehog/Intein hint domain

IPB009045 Hedgehog/DD-peptidase

UniProtKB/Swiss-Prot: DHH_HUMAN, O43323

Similarity: Belongs to the hedgehog 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: DHH_HUMAN, O43323

Function: Intercellular signal essential for a variety of patterning events during development. May function as a

spermatocyte survival factor in the testes. Essential for testes development

Genatlas biochemistry entry for DHH:

desert hedgehog,murine homolog,expressed in developing heart,putatively involved in regulating the cardiac development

Summary:

During embryonic development, DHH as signaling molecule is secreted from the following cells: Sertoli cells in Seminiferous Tubules It affects the following cells: Leydig Cells in Testis Interstitium, Peritubular Myoid Cells in Testis Cord (see all 3).

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DHH
		8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate DHH (see all 12):
		hsa-miR-623 hsa-miR-3163 hsa-miR-185* hsa-miR-3614-3p hsa-miR-4297 hsa-miR-1324 hsa-miR-340 hsa-miR-4282

		SwitchGear 3'UTR luciferase reporter plasmid: DHH 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 DHH (see all 4) OriGene shRNA RFP: DHH OriGene siRNA: DHH
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DHH
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHH

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005113	patched binding	IEA	--
GO:0005509	calcium ion binding	IDA	19561611
GO:0005515	protein binding	IPI	19561611
GO:0008233	peptidase activity	IEA	--
GO:0008270	zinc ion binding	IDA	19561611

DHH for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for DHH:

Elongated cells

Animal Models:
Mouse knock-out Dhh^tm1Amc for DHH
6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Dhh):

digestive/alimentary	endocrine/exocrine gland	homeostasis/metabolism	nervous system	other
reproductive system

DHH 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 - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Hedgehog Signaling Pathway

Hedgehog Signaling Pathway

1.00

Hedgehog Pathway

0.32

Activation of cAMP-Dependent PKA

Activation of PKA through GPCR

0.71

PKA Signaling

0.56

Signaling events mediated by the Hedgehog family

Signaling events mediated by the Hedgehog family

1.00

Rho Family GTPases

Molecular Mechanisms of Cancer

0.51

Basal cell carcinoma

Hedgehog signaling pathway

0.41

Pathway sources
See GeneCards unified pathways
Show all pathways

4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for DHH

	Activation of PKA through GPCR
	PKA Signaling
	Molecular Mechanisms of Cancer
	Hedgehog Signaling in Mammals

1 Tocris Bioscience Pathway for DHH

Hedgehog Pathway

2 BioSystems Pathways for DHH

	Hedgehog Signaling Pathway
	Signaling events mediated by the Hedgehog family

1 Kegg Pathway (Kegg details for DHH):

Hedgehog signaling pathway

DHH for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

5/33 Interacting proteins for DHH (O43323³ ENSP00000266991⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 33)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PTCH1	Q13635³, ENSP00000332353⁴	I2D: score=3 STRING: ENSP00000332353
HHIP	Q96QV1³, ENSP00000296575⁴	I2D: score=2 STRING: ENSP00000296575
PTCH2	Q9Y6C5³, ENSP00000361266⁴	I2D: score=1 STRING: ENSP00000361266
UBR5	O95071³, ENSP00000220959⁴	I2D: score=1 STRING: ENSP00000220959
UGDH	O60701³, ENSP00000319501⁴	I2D: score=1 STRING: ENSP00000319501

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	IEA	--
GO:0007267	cell-cell signaling	IEA	--
GO:0007275	multicellular organismal development	--	--
GO:0007286	spermatid development	IEA	--
GO:0022402	cell cycle process	IEA	--

DHH 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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DHH
Search CenterWatch for drugs/clinical trials and news about DHH

(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 DHH gene:

NM_021044.2

Unigene Cluster for DHH:

Desert hedgehog

Hs.524382 [show with all ESTs]

Unigene Representative Sequence: HQ607678

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000266991(uc001rtf.3)

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DHH
		8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate DHH (see all 12):
		hsa-miR-623 hsa-miR-3163 hsa-miR-185* hsa-miR-3614-3p hsa-miR-4297 hsa-miR-1324 hsa-miR-340 hsa-miR-4282

		SwitchGear 3'UTR luciferase reporter plasmid: DHH 3' UTR sequence

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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DHH (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DHH OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: DHH (NM_015336)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DHH
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DHH
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DHH

Additional cDNA sequence:

AK313360.1 BC033507.1 HQ607677.1 HQ607678.1 U59748.1

2 DOTS entries:

DT.423467 DT.91788446

3 AceView cDNA sequences:

BC033507 NM_021044 U59748

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

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

About this image

DHH expression in embryonic tissues and stem cells

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

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Testis

Atrioventricular Canal

Atrioventricular Canal Cells

Myocardium

Heart

Endocardium

Endocardial Tube Cells

Endocardium

Testis

Seminiferous Tubules

Testis

Testis Cord

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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

SOURCE GeneReport for Unigene cluster: Hs.524382

SABiosciences Expression via Pathway-Focused PCR Arrays including DHH:

Hedgehog Signaling Pathway in human mouse rat

Polycomb & Trithorax Target Genes in human mouse rat

Stem Cells in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHH

(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 animals.

Orthologs for DHH gene from 5/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Dhh^{1 , 5}	desert hedgehog^{1, 5}	88.38(n)¹ 96.46(a)¹		15 (55.05 cM)⁵ 13363¹ NM_007857.4¹ NP_031883.1¹ 98893031⁵
lizard (Anolis carolinensis)	Reptilia	DHH⁶	--	66(a)	1 ↔ 1	GL343198.1(2695100-2731455)
African clawed frog (Xenopus laevis)	Amphibia	dhh-A²	desert hedgehog homolog (Drosophila), hedgehog protein more	77.61(n)		U26350.1
zebrafish (Danio rerio)	Actinopterygii	dhh⁶	desert hedgehog	47(a)	1 ↔ 1	23(27981229-27989699)
fruit fly (Drosophila melanogaster)	Insecta	hh³	progression of morphogenetic furrow (sensu Drosophila) more	49(a)		3 94E1 --

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

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

Paralogs for DHH gene

SHH² IHH²

2 SIMAP similar genes for DHH using alignment to 3 protein entries: DHH_HUMAN (see all proteins):

IHH SHH

DHH for paralogs About GeneDecksing

(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 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs111033589^1,2	C	pathogenic	46516061(-)	`GTTGCC/TGGCGC`	2	P L	mis¹		0	--	--	--	--
rs104894346^1,2	C	pathogenic	46519364(-)	`ATCCAC/TGGCTC`	2	T M	mis¹		0	--	--	--	--
rs75012285^1,2	F,	--	46514621(+)	`CCAGTC/AGGCAT`	1	--	ut3¹		1		WA	118
rs75144834^1,2	C,F,	--	46517741(+)	`AATGCC/TCCTTT`	1	--	int¹		1		WA	118
rs12310622^1,2	C,F,H,	--	46517853(+)	`ATTAAT/CCAGAG`	1	--	int¹		10		NS EA NA WA	1210
rs11614504^1,2	H	--	46518147(+)	`ctcacA/Ccctgt`	1	--	int¹		0	--	--	--	--
rs77626778^1,2	F,	--	46518325(+)	`AAATGG/ATAGTT`	1	--	int¹		1		WA	118
rs76952972^1,2	F	--	46518413(+)	`TCTCAG/CGTGGG`	1	--	int¹		1		NA	4
rs11168855^1,2	C,F,	--	46518997(+)	`CACCTG/AGGCTG`	1	--	int¹		5		NA WA CSA	125
rs112818602^1,2		--	46519383(+)	`CCTCGG/ACCAAA`	1	--	ut5¹		2		CSA WA	120

HapMap Linkage Disequilibrium report for DHH (49483204 - 49488602 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DHH: --
Human Gene Mutation Database (HGMD): DHH

SABiosciences Cancer Mutation PCR Assays

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

DNA2.0 Custom Variant and Variant Library Synthesis for DHH

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

DHH for disorders           About GeneDecksing

OMIM gene information: 605423
OMIM disorders: 607080  233420
UniProtKB/Swiss-Prot: DHH_HUMAN, O43323

Defects in DHH may be the cause of partial gonadal dysgenesis with minifascicular neuropathy 46,XY (PGD)

[MIM:607080]. PGD is characterized by the presence of a testis on one side and a streak or an absent gonad at the

other, persistence of Muellerian duct structures, and a variable degree of genital ambiguity

Defects in DHH may be the cause of complete pure gonadal dysgenesis 46,XY type (GDXYM) [MIM:233420]; also

known as male-limited gonadal dysgenesis 46,XY. GDXYM is a type of hypogonadism in which no functional gonads are

present to induce puberty in an externally female person whose karyotype is then found to be XY. The gonads are found

to be non-functional streaks

15 diseases for DHH: About MalaCards

gonadal dysgenesis 46, xy disorders of sex development disorders of sex development mixed gonadal dysgenesis

cholesterol polyneuropathy basal cell carcinoma chronic lymphocytic leukemia

pseudohermaphroditism lymphocytic leukemia hypogonadism neuropathy

neurofibromatosis leukemia carcinoma

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

Gonadal dysgenesis

GeneTests: DHH

46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis

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(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)
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PubMed articles for DHH gene, integrated from 9 sources (see all 24):
(articles sorted by number of sources associating them with DHH)

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A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. (PubMed id 11017805)^{1, 2, 9} Umehara F....Osame M. (2000)
Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. (PubMed id 15356051)^{1, 2} Canto P.... Mendez J.P. (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)
Assignment of desert hedgehog (DHH) to human chromosome bands 12q12-->q13.1 by in situ hybridization. (PubMed id 10773676)^{1, 3} Tate G....Mitsuya T. (2000)
Assignment of human desert hedgehog gene (DHH) to chromosome band 12q13.1 by in situ hybridization. (PubMed id 10640830)^{1, 3} Kamisago M....Matsuoka R. (1999)
Desert hedgehog links transcription factor Sox10 to pe rineurial development. (PubMed id 22514309)¹ Kuspert M....Wegner M. (2012)
Developmental pathways in breast cancer and breast tum or-initiating cells: therapeutic implications. (PubMed id 22123293)¹ Izrailit J. and Reedijk M. (2012)
Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)¹ Lin Y.Y....Boeke J.D. (2012)
SOX9 expression increases with malignant potential in tumors from patients with neurofibromatosis 1 and is not correlated to desert hedgehog. (PubMed id 21193222)¹ Carbonnelle-Puscian A....Ortonne N. (2011)
Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structur al and functional implications by computational methods. (PubMed id 21816240)¹ Das D.K....Vasudevan L. (2011)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 50846	HGNC: 2865	AceView: DHH	Ensembl:ENSG00000139549	euGenes: HUgn50846
ECgene: DHH	Kegg: 50846	H-InvDB: DHH

(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)
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Name	Description
PharmGKB entry for DHH	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DHH gene
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Patent Information for DHH gene:
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