2. Gene
  3. TIMM44 - translocase of inner mitochondrial membrane 44 Gene

TIMM44 - translocase of inner mitochondrial membrane 44 Gene

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

中文名称：线粒体内膜转位酶 44

种属: Homo sapiens

同用名: TIM44

基因 ID: 10469 | 基因类型: protein coding

关于 TIMM44

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:7,926,718-7,943,666 (from NCBI)

This gene has 12 transcripts (splice variants) and 269 orthologues. Ubiquitous expression in heart (RPKM 13.8), thyroid (RPKM 10.9) and 25 other tissues.

功能概要

该基因编码一种与线粒体内膜转位酶相关的外周膜蛋白，该蛋白在蛋白质穿过线粒体内膜并进入线粒体基质中发挥作用。编码的蛋白质介导线粒体热休克蛋白 70 与线粒体内膜转位酶 23 (TIM23) 复合物的结合。在糖尿病小鼠模型中，该基因的表达在肾脏中上调。该基因的突变与家族性嗜酸细胞性甲状腺癌有关。[RefSeq 提供，2016 年 7 月]

This gene encodes a peripheral membrane protein associated with the mitochondrial inner membrane translocase, which functions in the import of proteins across the mitochondrial inner membrane and into the mitochondrial matrix. The encoded protein mediates binding of mitochondrial heat shock protein 70 to the translocase of inner mitochondrial membrane 23 (TIM23) complex. Expression of this gene is upregulated in kidney in a mouse model of diabetes. A mutation in this gene is associated with familial oncocytic thyroid carcinoma. [provided by RefSeq, Jul 2016]

TIMM44 基因产物(1)

mRNA Protein Name
NM_006351.4 NP_006342.2 mitochondrial import inner membrane translocase subunit TIM44
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
12620389 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of TIM23 mitochondrial import inner membrane translocase complex IDA
IDA: 通过直接分析推断
30598479 GOA
located in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
10339406 GOA
located in mitochondrial matrix IDA
IDA: 通过直接分析推断
10339406 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

TIMM44 蛋白结构

Tim44

Tim44: Tim44-like domain (297 - 444)

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

mitochondrial import inner membrane translocase subunit TIM44

translocase of inner mitochondrial membrane 44 homolog

关联疾病

疾病名称 别名
Spinocerebellar Ataxia 28

Spinocerebellar Ataxia Type 28

SCA28

Ataxia, Spinocerebellar, Type 28
Developmental And Epileptic Encephalopathy 12

Epileptic Encephalopathy, Early Infantile, 12

DEE12

Eiee12

Early Infantile Epileptic Encephalopathy 12

Developmental And Epileptic Encephalopathy, 12

Encephalopathy, Epileptic, Early Infantile, Type 12
3-Methylglutaconic Aciduria, Type V

3-Methylglutaconic Aciduria Type 5

Mga5

MGCA5

Dcma

Dcma Syndrome

Dilated Cardiomyopathy With Ataxia

3-Methylglutaconic Aciduria Type V

Mga Type V

Cardiomyopathy, Dilated, With Ataxia

Mga, Type V

Dilated Cardiomyopathy With Ataxia Syndrome

Dnajc19 Defect

3-Methylglutaconic Aciduria 5

3-Alpha-Methylglutaconic Aciduria Type 5

3-@Methylglutaconic Aciduria, Type V
Sengers Syndrome

Mitochondrial Dna Depletion Syndrome 10

Cardiomyopathy And Cataract

Cataract And Cardiomyopathy

MTDPS10

Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome

Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10

Senger Syndrome
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

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS14532 TIMM44 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 TIMM44 VGNC VGNC:66190
Mus musculus TIMM44 MGD MGI:1343262
Canis familiaris TIMM44 VGNC VGNC:49622
Rattus norvegicus TIMM44 RGD RGD:3864
Bos taurus TIMM44 VGNC VGNC:49577
Macaca mulatta TIMM44 VGNC VGNC:78401
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