HHAT Chromosome 1
Hedgehog acyltransferase
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What This Gene Does
'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002]
Gene Info
Gene Group
Membrane bound O-acyltransferase family
Locus Type
gene with protein product
Location
1q32.2
Ensembl
ENSG00000054392
Associated Conditions (2)
Inborn genetic diseases
Chondrodysplasia-pseudohermaphroditism syndrome
Key Variants
RS372287242
Conflicting classifications of pathogenicity
Health Risk
RS1340611668
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1173716957
Pathogenic
Chondrodysplasia-pseudohermaphroditism syndrome, Chondrodysplasia-pseudohermaphroditism syndrome
Health Risk
RS2092784129
Pathogenic
Chondrodysplasia-pseudohermaphroditism syndrome, Chondrodysplasia-pseudohermaphroditism syndrome
Health Risk
RS769492158
Pathogenic
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS372287242 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1340611668 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1173716957 | Health Risk | Pathogenic | Chondrodysplasia-pseudohermaphroditism syndrome, Chondrodysplasia-pseudohermaphroditism syndrome |
| RS2092784129 | Health Risk | Pathogenic | Chondrodysplasia-pseudohermaphroditism syndrome, Chondrodysplasia-pseudohermaphroditism syndrome |
| RS769492158 | Health Risk | Pathogenic | — |