TIMM44 - translocase of inner mitochondrial membrane 44 Gene

Homo sapiens

Also known as TIM44

Gene ID: 10469 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_006351.4	NP_006342.2	mitochondrial import inner membrane translocase subunit TIM44

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12620389	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of TIM23 mitochondrial import inner membrane translocase complex	IDA IDA: Inferred from direct assay	30598479	GOA
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	10339406	GOA
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	10339406	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TIMM44 Protein Structure

Tim44

0
100
200
300
400
452 a.a.

Protein Preferred Names

Protein Names

mitochondrial import inner membrane translocase subunit TIM44

translocase of inner mitochondrial membrane 44 homolog

Related Diseases

Diseases

Alias

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

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14532	TIMM44 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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