NAD(P)H Steroid Dehydrogenase-Like Protein

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OMIM Number

300275

NCBI Gene ID

50814

Uniprot ID

Q15738

Length

38,763 bases

No. of Exons

11

No. of isoforms

1

Protein Name

Sterol-4-Alpha-Carboxylate 3-Dehydrogenase, Decarboxylating

Molecular Mass

41900 Da

Amino Acid Count

373

Genomic Location

chrX:152,830,966-152,869,728

Gene Map Locus
Xq28

Description

The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_015922.3:c.314C>TLebanonchrX:152858816PathogenicCongenital Hemidysplasia with Ichthyosiform Erythroderma and Limb DefectsNG_009163.2:g.32850C>T; NM_015922.3:c.314C>T; NP_001123237.1:p.Ala105Val10489490911426
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