The Molecular Basis of 5α-Reductase Type 2 Deficiency.

doi:10.1159/000525119

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

The Molecular Basis of 5α-Reductase Type 2 Deficiency.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2022

Batista Rafael L, Mendonca Berenice B

Abstract excerpt

The 5α-reductase type 2 enzyme catalyzes the conversion of testosterone into dihydrotestosterone, playing a crucial role in male development. This enzyme is encoded by the SRD5A2 gene, which maps to chromosome 2 (2p23), consists of 5 exons and 4 introns, and encodes a 254 amino acid protein. Disruptions in this gene are the molecular etiology of a subgroup of differences of sex development (DSD) in 46,XY...

Topics

Humans
Male
Female
3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Disorder of Sex Development, 46,XY
Steroid Metabolism, Inborn Errors
Hypospadias
Dihydrotestosterone
Mutation
Membrane Proteins

Source

Open in PubMed

Identifiers

PMID: 35793650
DOI: 10.1159/000525119

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics