Sterol C5-Desaturase

Alternative Names

  • SC5D
  • Sterol C5-Desaturase-Like
  • SC5DL
  • 3-Beta-Hydroxysteroid-Delta-5-Desaturase
  • Delta-5-Desaturase
  • Lathosterol Dehydrogenase
  • ERG3, Candida Glabrata, Homolog of
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OMIM Number

602286

NCBI Gene ID

6309

Uniprot ID

O75845

Length

20,640 bases

No. of Exons

6

Protein Name

Lathosterol oxidase

Molecular Mass

35301 Da

Amino Acid Count

299

Genomic Location

chr11:121,292,771-121,313,410

Gene Map Locus
11q23.3-q24.1

Description

This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006918.5:c.418G>AUnited Arab EmiratesNC_000011.10:g.121306460G>AUncertain SignificanceNG_009446.1:g.18782G>A; NM_006918.5:c.418G>A; NP_008849.2:p.Gly140Ser7700489831460511
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