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CYP46A1 - cytochrome P450 family 46 subfamily A member 1 Gene

Also Known as CP46; CYP46

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10858

About CYP46A1

Cytogenetic location: 14q32.2 Genomic coordinates (GRCh38): 14:99,684,298-99,727,301 (from NCBI)

This gene has 7 transcripts (splice variants) and 260 orthologues. Biased expression in brain (RPKM 14.7), heart (RPKM 1.0) and 2 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 expressed in the brain, where it converts Cholesterol to 24S-hydroxycholesterol. While Cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq, Jul 2008]

CYP46A1 Products (1)

mRNA	Protein	Name
NM_006668.2	NP_006659.1	cholesterol 24-hydroxylase precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Références	Source
enables cholesterol 24-hydroxylase activity	IDA IDA: Inferred from direct assay	14640697	GOA
enables heme binding	IDA IDA: Inferred from direct assay	18621681	GOA
enables steroid hydroxylase activity	IDA IDA: Inferred from direct assay	14640697	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in cholesterol catabolic process	IDA IDA: Inferred from direct assay	14640697	GOA
involved in progesterone metabolic process	IDA IDA: Inferred from direct assay	14640697	GOA
involved in xenobiotic metabolic process	IDA IDA: Inferred from direct assay	20667828	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CYP46A1 Protein Structure

p450

0
100
200
300
400
500 a.a.

Protein Preferred Names	Protein Names
cholesterol 24-hydroxylase	CH24H

Related Diseases

Diseases	Alias
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Cerebrotendinous Xanthomatosis	CTX Cerebral Cholesterinosis Cholestanol Storage Disease Xanthomatosis, Cerebrotendinous Sterol 27-Hydroxylase Deficiency Xanthomatosis Cerebrotendinous Cerebrotendinous Cholesterinosis Cholestanolosis Van Bogaert-Scherer-Epstein Disease
C Syndrome	Opitz Trigonocephaly Syndrome Trigonocephaly Trigonocephaly Syndrome Trigonocephaly C Syndrome Opitz C Trigonocephaly Opitz Trigonocephaly C Syndrome Otcs CSYN
Ck Syndrome	CKS X-Linked Intellectual Disability-Microcephaly-Cortical Malformation-Thin Habitus Syndrome Mental Retardation, X-Linked, With Thin Body Habitus And Cortical Malformation
Smith-Lemli-Opitz Syndrome	SLOS Rsh Syndrome 7-Dehydrocholesterol Reductase Deficiency Slo Syndrome Rutledge Lethal Multiple Congenital Anomaly Syndrome Lethal Acrodysgenital Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung Smith-Opitz-Inborn Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung Smith Lemli Opitz Syndrome Smith-Lemli-Opitz Syndrome, Type Ii
Niemann-Pick Disease	Sphingomyelin/Cholesterol Lipidosis Niemann-Pick Diseases Lipoid Histiocytosis Sphingomyelin Lipidosis Sphingomyelinase Deficiency Disease Lipid Histiocytosis Neuronal Cholesterol Lipidosis Neuronal Lipidosis Npd Sphingomyelinase Deficiency Niemann-Pick Disease, Type A

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

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Phase
HY-109123	Soticlestat	Inhibitor	99.83%	Phase 3

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-144309	Cholesterol 24-hydroxylase-IN-1	Inhibitor	99.55%	Unkown
HY-156799	Cholesterol 24-hydroxylase-IN-2	Inhibitor	/	Unkown
HY-172205	CHL2310	Inhibitor	/	Unkown
HY-RS03475	CYP46A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18437	Cyp46a1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24919	Cyp46a1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CYP46A1	VGNC	VGNC:103344
Canis familiaris	CYP46A1	VGNC	VGNC:50360
Rattus norvegicus	CYP46A1	RGD	RGD:1306605
Mus musculus	CYP46A1	MGD	MGI:1341877
Macaca mulatta	CYP46A1	VGNC	VGNC:103627
Bos taurus	CYP46A1	VGNC	VGNC:110269