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  2. CRLS1 - cardiolipin synthase 1 Gene

CRLS1 - cardiolipin synthase 1 Gene

中文名称:心磷脂合酶 1

种属: Homo sapiens

同用名: CLS; CLS1; GCD10; C20orf155; dJ967N21.6

基因 ID: 54675 | 基因类型: protein coding

关于 CRLS1

Cytogenetic location: 20p12.3 Genomic coordinates (GRCh38): 20:6,005,938-6,040,053 (from NCBI)

This gene has 7 transcripts (splice variants), 197 orthologues and 1 paralogue. Ubiquitous expression in liver (RPKM 13.5), lung (RPKM 13.1) and 25 other tissues.

功能概要

该基因编码 CDP-酒精磷脂酰转移酶 I 类蛋白质家族的成员。编码的酶催化心磷脂的合成,心磷脂是线粒体膜的磷脂成分,对线粒体功能至关重要。[RefSeq 提供,2016 年 4 月]

This gene encodes a member of the CDP-alcohol phosphatidyltransferase class-I family of proteins. The encoded enzyme catalyzes the synthesis of cardiolipin, a phospholipid component of mitochondrial membranes that is critical for mitochondrial function. [provided by RefSeq, Apr 2016]

CRLS1 基因产物(6)

mRNA Protein Name
NM_001127458.2 NP_001120930.1 cardiolipin synthase (CMP-forming) isoform 2
NM_001323561.2 NP_001310490.1 cardiolipin synthase (CMP-forming) isoform 3
NM_001323562.2 NP_001310491.1 cardiolipin synthase (CMP-forming) isoform 3
NM_001323563.2 NP_001310492.1 cardiolipin synthase (CMP-forming) isoform 3
NM_001323564.2 NP_001310493.1 cardiolipin synthase (CMP-forming) isoform 3
NM_019095.6 NP_061968.1 cardiolipin synthase (CMP-forming) isoform 1

CRLS1 蛋白结构

CDP-OH_P_transf

CDP-OH_P_transf: CDP-alcohol phosphatidyltransferase (107 - 203)

  • 0
  • 100
  • 200
  • 301 a.a.
蛋白主名 其他名称

cardiolipin synthase (CMP-forming)

关联疾病

疾病名称 别名
Barth Syndrome

3-Methylglutaconic Aciduria Type 2

BTHS

Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria

Mga Type Ii

Mga2

Mgca2

Mga Type 2

3-Methylglutaconic Aciduria Type Ii

3-Methylglutaconic Aciduria, Type Ii

Mga, Type Ii

3-Methylglutaconicaciduria Type 2

3-Methylglutaconicaciduria Type Ii

Taz Defect

3 Methylglutaconic Aciduria, Type Ii

Dnajc19 Defect

Cardioskeletal Myopathy-Neutropenia Syndrome

X-Linked Cardioskeletal Myopathy And Neutropenia

3-Alpha-Methylglutaconic Aciduria Type 2

Agm2

Cardioskeletal Myopathy-Neutropenia

Invm

Left Ventricular Non-Compaction Isolated X-Linked

Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked

Agammaglobulinemia 2, Autosomal Recessive

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 CRLS1 VGNC VGNC:27719
Macaca mulatta CRLS1 VGNC VGNC:71419
Rattus norvegicus CRLS1 RGD RGD:1311037
Canis familiaris CRLS1 VGNC VGNC:39623
Mus musculus CRLS1 MGD MGI:1913836
Felis catus CRLS1 VGNC VGNC:61185