17-Beta Hydroxysteroid Dehydrogenase III

Alternative Names

  • HSD17B3
  • 17-Beta-HSD III
  • Estradiol 17-Beta-Dehydrogenase
  • EDH17b3
  • Testicular 17-Beta-Hydroxysteroid Dehydrogenase III
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OMIM Number

605573

NCBI Gene ID

3293

Uniprot ID

P37058

Length

78,678 bases

No. of Exons

16

No. of isoforms

2

Protein Name

Testosterone 17-Beta-Dehydrogenase 3

Molecular Mass

34516 Da

Amino Acid Count

310

Genomic Location

chr9:96,235,305-96,313,986

Gene Map Locus
9q22.32

Description

This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000197.1:c.823-67_823-59delUnited Arab EmiratesNC_000009.12:g.96235634_96235642delBenignNG_008157.1:g.71516_71524del; NM_000197.1:c.823-67_823-59del; NP_000188.1:p.?38310561220642
NM_000197.2:c.238C>TLebanonchr9:96254907Likely Pathogenic, PathogenicPathogenic17-Beta Hydroxysteroid Dehydrogenase III DeficiencyNG_008157.1:g.52246C>T; NM_000197.2:c.238C>T; NP_000188.1:p.Arg80Trp1194810774877
NM_000197.2:c.239G>APalestinechr9:96254906PathogenicPathogenic17-Beta Hydroxysteroid Dehydrogenase III DeficiencyNG_008157.1:g.52247G>A; NM_000197.2:c.239G>A; NP_000188.1:p.Arg80Gln 1194810754874
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