1. Gene
  2. CYP39A1 - cytochrome P450 family 39 subfamily A member 1 Gene

CYP39A1 - cytochrome P450 family 39 subfamily A member 1 Gene

Homo sapiens
Gene ID: 51302 | Gene type: protein coding

About CYP39A1

Cytogenetic location: 6p12.3 Genomic coordinates (GRCh38): 6:46,549,580-46,652,818 (from NCBI)

This gene has 5 transcripts (splice variants), 153 orthologues and 2 paralogues. Broad expression in liver (RPKM 10.7), prostate (RPKM 4.4) and 14 other tissues.

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 endoplasmic reticulum protein is involved in the conversion of Cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

CYP39A1 Products(3)

mRNA Protein Name
NM_001278738.2 NP_001265667.1 24-hydroxycholesterol 7-alpha-hydroxylase isoform 2
NM_001278739.2 NP_001265668.1 24-hydroxycholesterol 7-alpha-hydroxylase isoform 3
NM_016593.5 NP_057677.2 24-hydroxycholesterol 7-alpha-hydroxylase isoform 1

CYP39A1 Protein Structure

p450

p450: Cytochrome P450 (29 - 457)

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  • 469 a.a.
Protein Preferred Names Protein Names

24-hydroxycholesterol 7-alpha-hydroxylase

cytochrome P450, family 39, subfamily A, polypeptide 1

Related Diseases

Diseases Alias
Exfoliation Syndrome

Pseudoexfoliation Glaucoma

Pseudoexfoliation Syndrome

Exfoliation Syndrome, Susceptibility To

XFS

Exfoliation Glaucoma

Xfg

Pseudoexfoliation Of The Lens

Pexg

Pexs

Exfoliative Syndrome

Glaucoma Capsulare

Pex

Pseudo-Exfoliation Syndrome

Cerebrotendinous Xanthomatosis

CTX

Cerebral Cholesterinosis

Cholestanol Storage Disease

Xanthomatosis, Cerebrotendinous

Sterol 27-Hydroxylase Deficiency

Xanthomatosis Cerebrotendinous

Cerebrotendinous Cholesterinosis

Cholestanolosis

Van Bogaert-Scherer-Epstein Disease

Cholestasis, Benign Recurrent Intrahepatic, 1

Benign Recurrent Intrahepatic Cholestasis

BRIC1

Summerskill Syndrome

Bric

Summerskill-Walshe-Tygstrup Syndrome

Cholestasis, Benign Recurrent Intrahepatic

Benign Recurrent Intrahepatic Cholestasis 1

Benign Recurrent Intrahepatic Cholestasis Type 1

Bric Type 1

Low Gamma-Gt Familial Intrahepatic Cholestasis

Recurrent Familial Intrahepatic Cholestasis

Cholestasis, Benign Recurrent Intrahepatic 1

Mild Atp8b1 Deficiency

Recurrent Familial Intrahepatic Cholestasis 1

Abcb11-Related Intrahepatic Cholestasis

Atp8b1-Related Intrahepatic Cholestasis

Cholestasis, Intrahepatic, Recurrent, Benign, Type 1

Progressive Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic 3

Bric - [Benign Recurrent Intrahepatic Cholestasis]

Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C

NPC1

Niemann-Pick Disease, Type D

Niemann-Pick Disease Type C1

Niemann-Pick Disease With Cholesterol Esterification Block

Niemann-Pick Disease, Subacute Juvenile Form

Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia

Npc

Niemann-Pick Disease, Chronic Neuronopathic Form

Niemann-Pick Disease Without Sphingomyelinase Deficiency

Niemann-Pick Disease Type C

Niemann-Pick Disease Type D

Niemann-Pick C1 Disease

Niemann-Pick Disease C1

Niemann-Pick Disease Chronic Neuronopathic Form

Niemann-Pick Disease Nova Scotian Type

Niemann-Pick Disease Subacute Juvenile Form

Niemann-Pick Disease Type Ii

Niemann-Picks Disease Type C

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus CYP39A1 MGD MGI:1927096
Felis catus CYP39A1 VGNC VGNC:103343
Rattus norvegicus CYP39A1 RGD RGD:1307471
Bos taurus CYP39A1 VGNC VGNC:110264
Canis familiaris CYP39A1 VGNC VGNC:50359