2. Gene
  3. CYP46A1 - cytochrome P450 family 46 subfamily A member 1 Gene

CYP46A1 - cytochrome P450 family 46 subfamily A member 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：细胞色素 P450 家族 46 亚家族 A 成员 1

种属: Homo sapiens

同用名: CP46; CYP46

基因 ID: 10858 | 基因类型: protein coding

关于 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.

功能概要

该基因编码细胞色素 P450 酶超家族的成员。细胞色素 P450 蛋白是单加氧酶，可催化许多涉及药物代谢和胆固醇、类固醇和其他脂质合成的反应。这种内质网蛋白在大脑中表达，可将胆固醇转化为 24S-羟基胆固醇。虽然胆固醇不能通过血脑屏障，但 24S-羟基胆固醇可以在大脑中分泌到循环中，回到肝脏进行分解代谢。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_006668.2 NP_006659.1 cholesterol 24-hydroxylase precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cholesterol 24-hydroxylase activity IDA
IDA: 通过直接分析推断
14640697 GOA
enables heme binding IDA
IDA: 通过直接分析推断
18621681 GOA
enables steroid hydroxylase activity IDA
IDA: 通过直接分析推断
14640697 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cholesterol catabolic process IDA
IDA: 通过直接分析推断
14640697 GOA
involved in progesterone metabolic process IDA
IDA: 通过直接分析推断
14640697 GOA
involved in xenobiotic metabolic process IDA
IDA: 通过直接分析推断
20667828 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CYP46A1 蛋白结构

p450

p450: Cytochrome P450 (34 - 470)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500 a.a.
蛋白主名 其他名称

cholesterol 24-hydroxylase

CH24H

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Clinical Phase
生物活性分子 (1)
目录号 产品名 作用方式
纯度 Phase
HY-109123 Soticlestat Inhibitor 99.93% Phase 3
Pre-clinical Phase
生物活性分子 (5)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-144309 Cholesterol 24-hydroxylase-IN-1 Inhibitor 99.53% 否
HY-156799 Cholesterol 24-hydroxylase-IN-2 Inhibitor / 否
HY-E70510 Human CYP46A1,Low-Reductase / 否
HY-E70511 Human CYP46A1,High-Reductase / 否
HY-RS03475 CYP46A1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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