TIMM23 - translocase of inner mitochondrial membrane 23 Gene

Homo sapiens

Also known as TIM23

Gene ID: 100287932 | Gene type: protein coding

About TIMM23

Cytogenetic location: 10q11.22 Genomic coordinates (GRCh38): 10:45,972,489-46,003,742 (from NCBI)

This gene has 1 transcript (splice variant), 234 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 39.1), heart (RPKM 22.4) and 25 other tissues.

Summary

The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple transcript variants, one protein-coding and Others not protein-coding, have been found for this gene. [provided by RefSeq, Jul 2012]

TIMM23 Products(1)

mRNA	Protein	Name
NM_006327.4	NP_006318.1	mitochondrial import inner membrane translocase subunit Tim23

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15044455	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in type 2 mitophagy	IMP IMP: Inferred from mutant phenotype	37160114	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of TIM23 mitochondrial import inner membrane translocase complex	IDA IDA: Inferred from direct assay	10339406	GOA
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	10339406	GOA
located in mitochondrial intermembrane space	IDA IDA: Inferred from direct assay	15044455	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

TIMM23 Protein Structure

Tim17

0
100
209 a.a.

Protein Preferred Names

Protein Names

mitochondrial import inner membrane translocase subunit Tim23

translocase of inner mitochondrial membrane 23 homolog

Related Diseases

Diseases

Alias

Cardiomyopathy, Familial Hypertrophic, 16

Hypertrophic Cardiomyopathy 16	CMH16
Cardiomyopathy, Hypertrophic, 16	Cardiomyopathy Familial Hypertrophic 16
Cardiomyopathy, Familial Hypertrophic 16	Cardiomyopathy, Hypertrophic, Familial, Type 16

Cardiomyopathy, Familial Hypertrophic, 18

Hypertrophic Cardiomyopathy 18	CMH18
Cardiomyopathy, Hypertrophic, 18	Cardiomyopathy Familial Hypertrophic 18
Cardiomyopathy, Familial Hypertrophic 18	Cardiomyopathy, Hypertrophic, Familial, Type 18

Cardiomyopathy, Familial Hypertrophic, 17

Hypertrophic Cardiomyopathy 17	CMH17
Cardiomyopathy, Hypertrophic, 17	Cardiomyopathy Familial Hypertrophic 17
Cardiomyopathy, Familial Hypertrophic 17	Cardiomyopathy, Hypertrophic, Familial, Type 17

Mohr-Tranebjaerg Syndrome

Deafness-Dystonia-Optic Neuronopathy Syndrome	Jensen Syndrome
Deafness Dystonia Syndrome	MTS
Dds	Deafness-Dystonia-Optic Atrophy Syndrome
Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency	Opticoacoustic Nerve Atrophy With Dementia
Dystonia-Deafness Syndrome	Ddp
Ddon Syndrome	Mohr-Tranebjærg Syndrome
Deafness Dystonia Optic Atrophy Syndrome	Deafness Dystonia Optic Neuronopathy Syndrome
Dystonia Deafness Syndrome	Ddon
Deafness - Dystonia - Optic Neuronopathy Syndrome	Deafness-Dystonia-Optic Neuronopathy Syndrome
Hearing Loss-Dystonia-Optic Neuronopathy Syndrome	Dfn-1
X-Linked Progressive Deafness Type 1

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

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

3-Methyl Glutaconic Aciduria

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-RS14531	TIMM23 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TIMM23	MGD	MGI:1858317

Name
Email *

	Sorry, but the email address you supplied was invalid.