TIMM17A - translocase of inner mitochondrial membrane 17A Gene

Also Known as TIM17; TIM17A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10440

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

Gene Ontology

  • Cellular Component
Cellular Component GO Annotation Evidence References 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
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

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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS14529 TIMM17A Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21262 Timm17a Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27781 Timm17a Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

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
Others TIMM17A NCBI