SRD5A3 Chromosome 4
Steroid 5 alpha-reductase 3
Upload your DNA to see your personal genotypes for variants in SRD5A3.
What This Gene Does
The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011]
Gene Info
Gene Group
Steroid 5-alpha reductase family
Locus Type
gene with protein product
Location
4q12
Ensembl
ENSG00000128039
Associated Conditions (11)
SRD5A3-congenital disorder of glycosylation
SRD5A3-related disorder
Inborn genetic diseases
Congenital disorder of glycosylation
Kahrizi syndrome
Abnormality of the nervous system
Cone dystrophy
Global developmental delay
Autism
Retinal disorder
Abnormal optic nerve morphology
Key Variants
RS199975696
Conflicting classifications of pathogenicity
SRD5A3-congenital disorder of glycosylation, SRD5A3-related disorder, SRD5A3-congenital disorder of glycosylation
Health Risk
RS200253126
Conflicting classifications of pathogenicity
SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation
Health Risk
RS201123766
Conflicting classifications of pathogenicity
SRD5A3-congenital disorder of glycosylation, SRD5A3-related disorder, SRD5A3-congenital disorder of glycosylation
Health Risk
RS2109489105
Conflicting classifications of pathogenicity
SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation
Health Risk
RS35496669
Conflicting classifications of pathogenicity
SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation
Health Risk
RS376944136
Conflicting classifications of pathogenicity
SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation
Health Risk
RS748408459
Conflicting classifications of pathogenicity
SRD5A3-congenital disorder of glycosylation, Inborn genetic diseases, SRD5A3-congenital disorder of glycosylation
Health Risk
RS752307253
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation, Congenital disorder of glycosylation
Health Risk
RS754837473
Conflicting classifications of pathogenicity
SRD5A3-congenital disorder of glycosylation, Kahrizi syndrome, SRD5A3-congenital disorder of glycosylation
Health Risk
RS772795484
Conflicting classifications of pathogenicity
SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation
Health Risk
RS797046008
Conflicting classifications of pathogenicity
SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation
Health Risk
RS1317517756
Likely pathogenic
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199975696 | Health Risk | Conflicting classifications of pathogenicity | SRD5A3-congenital disorder of glycosylation, SRD5A3-related disorder, SRD5A3-congenital disorder of glycosylation |
| RS200253126 | Health Risk | Conflicting classifications of pathogenicity | SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation |
| RS201123766 | Health Risk | Conflicting classifications of pathogenicity | SRD5A3-congenital disorder of glycosylation, SRD5A3-related disorder, SRD5A3-congenital disorder of glycosylation |
| RS2109489105 | Health Risk | Conflicting classifications of pathogenicity | SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation |
| RS35496669 | Health Risk | Conflicting classifications of pathogenicity | SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation |
| RS376944136 | Health Risk | Conflicting classifications of pathogenicity | SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation |
| RS748408459 | Health Risk | Conflicting classifications of pathogenicity | SRD5A3-congenital disorder of glycosylation, Inborn genetic diseases, SRD5A3-congenital disorder of glycosylation |
| RS752307253 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation, Congenital disorder of glycosylation |
| RS754837473 | Health Risk | Conflicting classifications of pathogenicity | SRD5A3-congenital disorder of glycosylation, Kahrizi syndrome, SRD5A3-congenital disorder of glycosylation |
| RS772795484 | Health Risk | Conflicting classifications of pathogenicity | SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation |
| RS797046008 | Health Risk | Conflicting classifications of pathogenicity | SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation |
| RS1317517756 | Health Risk | Likely pathogenic | — |
| RS2109488570 | Health Risk | Likely pathogenic | Abnormality of the nervous system, Abnormality of the nervous system |
| RS2545455816 | Health Risk | Likely pathogenic | SRD5A3-related disorder, SRD5A3-related disorder |
| RS376616205 | Health Risk | Likely pathogenic | — |
| RS763516132 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation, Congenital disorder of glycosylation |
| RS886039433 | Health Risk | Likely pathogenic | — |
| RS1064796421 | Health Risk | Pathogenic | — |
| RS1482361634 | Health Risk | Pathogenic | SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation |
| RS1487808056 | Health Risk | Pathogenic | — |
| RS2545437087 | Health Risk | Pathogenic | SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation |
| RS267607092 | Health Risk | Pathogenic | SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation |
| RS267607093 | Health Risk | Pathogenic | SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation |
| RS267607094 | Health Risk | Pathogenic | SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation |
| RS267607095 | Health Risk | Pathogenic | SRD5A3-congenital disorder of glycosylation, Abnormality of the nervous system, SRD5A3-congenital disorder of glycosylation |
| RS398124401 | Health Risk | Pathogenic | SRD5A3-congenital disorder of glycosylation, Congenital disorder of glycosylation, Cone dystrophy |
| RS587776521 | Health Risk | Pathogenic | SRD5A3-congenital disorder of glycosylation, Kahrizi syndrome, SRD5A3-congenital disorder of glycosylation |
| RS765191836 | Health Risk | Pathogenic | Inborn genetic diseases, Congenital disorder of glycosylation, Inborn genetic diseases |
| RS869320736 | Health Risk | Pathogenic | Kahrizi syndrome, Kahrizi syndrome |
| RS1578209906 | Health Risk | Pathogenic/Likely pathogenic | Kahrizi syndrome, SRD5A3-congenital disorder of glycosylation, Kahrizi syndrome |
| RS1719958144 | Health Risk | Pathogenic/Likely pathogenic | SRD5A3-congenital disorder of glycosylation, Kahrizi syndrome, SRD5A3-congenital disorder of glycosylation |
| RS777551011 | Health Risk | Pathogenic/Likely pathogenic | Abnormal optic nerve morphology, Abnormal optic nerve morphology |