Cytochrome P450, Subfamily XXVIIA, Polypeptide 1

Alternative Names

  • CYP27A1
  • CYP27
  • Sterol 27-Hydroxylase
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OMIM Number

606530

NCBI Gene ID

1593

Uniprot ID

Q02318

Length

33,147 bases

No. of Exons

9

No. of isoforms

1

Protein Name

Sterol 26-hydroxylase, mitochondrial

Molecular Mass

60235 Da

Amino Acid Count

531

Genomic Location

chr2:218,782,147-218,815,293

Gene Map Locus
2q35

Description

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000784.4:c.1061A>GQatarNC_000002.12:g.218814064A>GPathogenicUncertain SignificanceNG_007959.1:g.37316A>G; NM_000784.4:c.1061A>G; NP_000775.1:p.Asp354Gly7255132065827
NM_000784.4:c.1263+1G>ASaudi ArabiaNC_000002.12:g.218814459G>APathogenicPathogenicCerebrotendinous XanthomatosisNG_007959.1:g.37711G>A; NM_000784.4:c.1263+1G>A; NP_000775.1:p.?3975153554262
NM_000784.4:c.1342C>TSyriaNC_000002.12:g.218814623C>TUncertain SignificanceLikely PathogenicCerebrotendinous XanthomatosisNG_007959.1:g.37875C>T; NM_000784.4:c.1342C>T; NP_000775.1:p.Arg448Cys730882199183278
NM_000784.4:c.1420C>TEgypt; QatarNC_000002.12:g.218814701C>TLikely Pathogenic, PathogenicPathogenicCerebrotendinous XanthomatosisNG_007959.1:g.37953C>T; NM_000784.4:c.1420C>T; NP_000775.1:p.Arg474Trp1219080984259
NM_000784.4:c.776delQatarNC_000002.12:g.218812681delPathogenicPathogenicNG_007959.1:g.35933del; NM_000784.4:c.776del; NP_000775.1:p.Lys259SerfsTer271343936087594465
NM_000784.4:c.808C>TQatarNC_000002.12:g.218812713C>TPathogenicPathogenicNG_007959.1:g.35965C>T; NM_000784.4:c.808C>T; NP_000775.1:p.Arg270Ter7255131865902
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