1. Gene
  2. TIMM23 - translocase of inner mitochondrial membrane 23 Gene

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

TIMM23 Protein Structure

Tim17

Tim17: Tim17/Tim22/Tim23/Pmp24 family (76 - 197)

  • 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

Orthologs Information

Species Symbol Source ID
Mus musculus TIMM23 MGD MGI:1858317