1. Gene
  2. TIMM17A - translocase of inner mitochondrial membrane 17A Gene

TIMM17A - translocase of inner mitochondrial membrane 17A Gene

Homo sapiens

Also known as TIM17; TIM17A

Gene ID: 10440 | Gene type: protein coding

About TIMM17A

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:201,955,503-201,970,664 (from NCBI)

This gene has 4 transcripts (splice variants), 224 orthologues and 1 paralogue. Ubiquitous expression in adrenal (RPKM 27.6), heart (RPKM 27.5) and 25 other tissues.

Summary

Predicted to contribute to protein transmembrane transporter activity. Predicted to be involved in protein import into mitochondrial matrix. Located in mitochondrial inner membrane and nucleoplasm. Is integral component of mitochondrial inner membrane. Part of TIM23 mitochondrial import inner membrane translocase complex. [provided by Alliance of Genome Resources, Apr 2022]

TIMM17A Products(1)

mRNA Protein Name
NM_006335.3 NP_006326.1 mitochondrial import inner membrane translocase subunit Tim17-A

TIMM17A Protein Structure

Tim17

Tim17: Tim17/Tim22/Tim23/Pmp24 family (8 - 131)

  • 0
  • 100
  • 171 a.a.
Protein Preferred Names Protein Names

mitochondrial import inner membrane translocase subunit Tim17-A

inner membrane preprotein translocase Tim17a

Related Diseases

Diseases Alias
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

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

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

Combined Oxidative Phosphorylation Deficiency 31

Lethal Left Ventricular Non-Compaction-Seizures-Hypotonia-Cataract-Developmental Delay Syndrome

COXPD31

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

Spinocerebellar Ataxia 28

Spinocerebellar Ataxia Type 28

SCA28

Ataxia, Spinocerebellar, Type 28

3-Methylglutaconic Aciduria

3-Methyl Glutaconic Aciduria

Mitochondrial Dna Depletion Syndrome

Mtdna Depletion Syndrome

Myoclonic Epilepsy Associated With Ragged-Red Fibers

Merrf Syndrome

MERRF

Fukuhara Syndrome

Myoclonic Epilepsy Associated With Ragged Red Fibers

Myoencephalopathy Ragged-Red Fiber Disease

Myoclonic Epilepsy - Ragged Red Fibers

Myoclonus Epilepsy And Ragged Red Fibers

Myoclonus With Epilepsy And With Ragged Red Fibers

Myoclonic Epilepsy With Ragged Red Fibers

Myoclonic Epilepsy With Ragged-Red Fibers

Fukuhara Disease

Myoclonus Epilepsy Associated With Ragged-Red Fibres

Myoclonus With Epilepsy With Ragged Red Fibers

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
Felis catus TIMM17A VGNC VGNC:66187
Macaca mulatta TIMM17A VGNC VGNC:78400
Canis familiaris TIMM17A VGNC VGNC:49619
Mus musculus TIMM17A MGD MGI:1343131
Rattus norvegicus TIMM17A RGD RGD:3862
Bos taurus TIMM17A VGNC VGNC:49572