rs961535017

This variant is located in the SRD5A2 gene.

▶

ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency

View on ClinVar →

About SRD5A2

This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]

View all SRD5A2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…