Steroid 5-Alpha-Reductase 3

Alternative Names

  • SRD5A3
  • Steroid 5-Alpha-Reductase 2-Like 1
  • SRD5A2L1
  • SRD5A2L
  • Polyprenol Reductase
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OMIM Number

611715

NCBI Gene ID

79644

Uniprot ID

Q9H8P0

Length

26,873 bases

No. of Exons

6

No. of isoforms

1

Protein Name

Polyprenol reductase

Molecular Mass

36521 Da

Amino Acid Count

318

Genomic Location

chr4:55,346,227-55,373,099

Gene Map Locus
4q12

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_024592.4:c.286_288delinsTGAGTAAGGCUnited Arab EmiratesNC_000004.12:g.55359410_55359412delinsTGAGTAAGGCPathogenicLikely Pathogenic, PathogenicCongenital Disorder Of Glycosylation, Type IqNG_028230.1:g.18190_18192delinsTGAGTAAGGC; NM_024592.4:c.286_288delinsTGAGTAAGGC; NP_078868.1:p.Gln96Ter58777652118404
NM_024592.5:c.57G>AUnited Arab EmiratesNC_000004.12:g.55346393G>ALikely Pathogenic, PathogenicPathogenicCongenital Disorder Of Glycosylation, Type IqNG_028230.1:g.5173G>A; NM_024592.5:c.57G>A; NP_078868.1:p.Trp19Ter39812440196125
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