CYP46A1 - cytochrome P450 family 46 subfamily A member 1 Gene

Homo sapiens

Also known as CP46; CYP46

Gene ID: 10858 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-109123	Soticlestat	Inhibitor	99.93%	Phase 3

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-144309	Cholesterol 24-hydroxylase-IN-1	Inhibitor	99.53%	Unkown
HY-156799	Cholesterol 24-hydroxylase-IN-2	Inhibitor	/	Unkown
HY-RS03475	CYP46A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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