| Type | Description |
|---|---|
| Definition | desert hedgehog signaling molecule |
| Date | Results | Publications |
|---|---|---|
| 2020-10-10 13:00:00 | DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation. | 32504121 |
| 2020-06-06 10:27:00 | Our findings suggest heterozygous DHH gene variants are unlikely to cause DSD, reaffirming that DHH is an autosomal recessive cause of 46,XY gonadal dysgenesis. | 31018998 |
| 2020-03-28 10:29:00 | Defects in the DHH gene have been reported as a very rare cause of Disorders of sex development, and this report increases the number of 46,XY gonadal dysgenesis cases. | 31240586 |
| 2019-10-12 11:05:00 | Study describes two patients diagnosed with gonadal dysgenesis (GD), both harboring novel DHH compound heterozygous mutations p.[Tyr176*];[Asn337Lysfs*24] and p.[Tyr176*];[Glu212Lys]. While p.(Glu212Lys) retained 50% of its activity and led to a partially abolished DHH auto-processing, p.(Asn337Lysfs*24) resulted in a complete absence of auto-proteolysis. | 30298535 |
| 2019-10-05 11:42:00 | Identify Dhh (desert hedgehog) as a downstream effector of Klf2, whose expression in endothelial cells is upregulated by shear stress and decreased by inflammatory cytokines. | 30355159 |
| Type | IDs |
|---|---|
| Synonymous | GDXYM, HHG-3, SRXY7 |
| Gene |
UniProtKB-ID:
DHH_HUMAN
UniprotKB:
O43323
UniParc:
UPI0000035884
EMBL:
AB010994,
U59748,
BC033507
Ensembl:
ENSG00000139549
KO:
hsa:50846
|
| Nucleutide sequences |
EMBL-CDS:
AAB03398.1,
BAA24866.1,
AAH33507.1
Ensembl_TRS:
ENST00000649637
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000497483
RefSeq:
XP_016874870.1,
XP_016874869.1,
NP_066382.1
|
| Others |
UniRef100:
UniRef100_O43323
UniRef90:
UniRef90_O43323
UniRef50:
UniRef50_O43323
UniGene:
Hs.524382
CCDS:
CCDS8779.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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