CYP27A1

GENE INFORMATION

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Gene name

CYP27A1 (HGNC Symbol)

Synonyms

CP27, CTX, CYP27

Description

Cytochrome P450, family 27, subfamily A, polypeptide 1 (HGNC Symbol)

Entrez gene summary

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. [provided by RefSeq, Jul 2008]

Chromosome

2

Cytoband

q35

Chromosome location (bp)

218781749 - 218815293

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000135929 (version 78.38)

Entrez gene

1593

UniProt

Q02318 (UniProt - Evidence at protein level)

neXtProt

NX_Q02318

Antibodypedia

CYP27A1 antibodies
 

PROTEIN VIEW

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CYP27A1-001
 
CYP27A1-005
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CYP27A1-001 ENSP00000258415
ENST00000258415
Q02318
Show all »
Show » Show » 531 60.2 No 0
CYP27A1-005 ENSP00000392671
ENST00000411688
C9J1K5
Show all »
Show » Show » 221 25.8 No 0