DHH Chromosome 12
Desert hedgehog signaling molecule
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What This Gene Does
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]
Gene Info
Gene Group
Hedgehog signaling molecule family
Locus Type
gene with protein product
Location
12q13.12
Ensembl
ENSG00000139549
Associated Conditions (4)
46
XY sex reversal 7
DHH-related disorder
XY gonadal dysgenesis-motor and sensory neuropathy syndrome
Key Variants
RS144444357
Conflicting classifications of pathogenicity
46, XY sex reversal 7, 46
Health Risk
RS201597166
Conflicting classifications of pathogenicity
46, XY sex reversal 7, 46
Health Risk
RS370468314
Conflicting classifications of pathogenicity
46, XY sex reversal 7, 46
Health Risk
RS1178487029
Likely pathogenic
DHH-related disorder, DHH-related disorder
Health Risk
RS1480612338
Likely pathogenic
46, XY sex reversal 7, 46
Health Risk
RS2498532193
Likely pathogenic
Health Risk
RS867798393
Likely pathogenic
46, XY sex reversal 7, 46
Health Risk
RS104894346
Pathogenic
46, XY gonadal dysgenesis-motor and sensory neuropathy syndrome, 46
Health Risk
RS111033589
Pathogenic
46, XY sex reversal 7, 46
Health Risk
RS1565572949
Pathogenic
46, XY sex reversal 7, 46
Health Risk
RS1565573786
Pathogenic
46, XY sex reversal 7, 46
Health Risk
RS1565573892
Pathogenic
46, XY gonadal dysgenesis-motor and sensory neuropathy syndrome, 46
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144444357 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 7, 46 |
| RS201597166 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 7, 46 |
| RS370468314 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 7, 46 |
| RS1178487029 | Health Risk | Likely pathogenic | DHH-related disorder, DHH-related disorder |
| RS1480612338 | Health Risk | Likely pathogenic | 46, XY sex reversal 7, 46 |
| RS2498532193 | Health Risk | Likely pathogenic | — |
| RS867798393 | Health Risk | Likely pathogenic | 46, XY sex reversal 7, 46 |
| RS104894346 | Health Risk | Pathogenic | 46, XY gonadal dysgenesis-motor and sensory neuropathy syndrome, 46 |
| RS111033589 | Health Risk | Pathogenic | 46, XY sex reversal 7, 46 |
| RS1565572949 | Health Risk | Pathogenic | 46, XY sex reversal 7, 46 |
| RS1565573786 | Health Risk | Pathogenic | 46, XY sex reversal 7, 46 |
| RS1565573892 | Health Risk | Pathogenic | 46, XY gonadal dysgenesis-motor and sensory neuropathy syndrome, 46 |
| RS1592184934 | Health Risk | Pathogenic | 46, XY sex reversal 7, 46 |
| RS1939295073 | Health Risk | Pathogenic | 46, XY gonadal dysgenesis-motor and sensory neuropathy syndrome, 46 |
| RS1939296210 | Health Risk | Pathogenic | 46, XY gonadal dysgenesis-motor and sensory neuropathy syndrome, 46 |
| RS2120821285 | Health Risk | Pathogenic | 46, XY sex reversal 7, 46 |