1. Gene
  2. CROT - carnitine O-octanoyltransferase Gene

CROT - carnitine O-octanoyltransferase Gene

中文名称:肉碱 O-辛酰基转移酶

种属: Homo sapiens

同用名: COT

基因 ID: 54677 | 基因类型: protein coding

关于 CROT

Cytogenetic location: 7q21.12 Genomic coordinates (GRCh38): 7:87,345,664-87,399,794 (from NCBI)

This gene has 7 transcripts (splice variants), 216 orthologues and 6 paralogues. Ubiquitous expression in thyroid (RPKM 12.0), urinary bladder (RPKM 8.5) and 22 other tissues.

功能概要

该基因编码肉毒碱/胆碱乙酰转移酶家族的成员。编码的蛋白质将 4,8-二甲基壬酰辅酶 A 转化为其相应的肉碱酯。这种酯交换发生在过氧化物酶体中,并且是将中链和长链酰基辅酶 A 分子从过氧化物酶体转运到胞质溶胶和线粒体所必需的。因此,该蛋白质在脂质代谢和脂肪酸 β-氧化中发挥作用。已经描述了选择性剪接的转录变体。[RefSeq 提供,2009 年 1 月]

This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein converts 4,8-dimethylnonanoyl-CoA to its corresponding carnitine ester. This transesterification occurs in the peroxisome and is necessary for transport of medium- and long- chain acyl-CoA molecules out of the peroxisome to the cytosol and mitochondria. The protein thus plays a role in lipid metabolism and fatty acid beta-oxidation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009]

CROT 基因产物(3)

mRNA Protein Name
NM_001143935.2 NP_001137407.1 peroxisomal carnitine O-octanoyltransferase isoform 1
NM_001243745.3 NP_001230674.1 peroxisomal carnitine O-octanoyltransferase isoform 3
NM_021151.4 NP_066974.2 peroxisomal carnitine O-octanoyltransferase isoform 2

CROT 蛋白结构

Carn_acyltransf

Carn_acyltransf: Choline/Carnitine o-acyltransferase (19 - 604)

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  • 612 a.a.
蛋白主名 其他名称

peroxisomal carnitine O-octanoyltransferase

peroxisomal carnitine acyltransferase

重组 CROT 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74218 CROT Protein, Human (V474L, sf9, His) Q9UKG9 (M1-L612,V474L) ≥95%

关联疾病

疾病名称 别名
Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus CROT VGNC VGNC:27723
Rattus norvegicus CROT RGD RGD:70908
Felis catus CROT VGNC VGNC:61188
Macaca mulatta CROT VGNC VGNC:71495
Mus musculus CROT MGD MGI:1921364
Canis familiaris CROT VGNC VGNC:39627
Others CROT NCBI