1. Gene
  2. TIMM22 - translocase of inner mitochondrial membrane 22 Gene

TIMM22 - translocase of inner mitochondrial membrane 22 Gene

Homo sapiens

Also known as TEX4; TIM22; COXPD43

Gene ID: 29928 | Gene type: protein coding

About TIMM22

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:997,129-1,003,671 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 208 orthologues and is associated with 1 phenotype. Ubiquitous expression in heart (RPKM 10.4), placenta (RPKM 10.3) and 25 other tissues.

Summary

Multipass transmembrane proteins are brought into mitochondria and inserted into the mitochondrial inner membrane by way of the TIM22 complex. This complex has six subunits and is a twin-pore translocase. The protein encoded by this gene is a subunit of TIM22 and represents the voltage-activated and signal-gated channel. [provided by RefSeq, Jul 2016]

TIMM22 Products(1)

mRNA Protein Name
NM_013337.4 NP_037469.2 mitochondrial import inner membrane translocase subunit Tim22

TIMM22 Protein Structure

Tim17

Tim17: Tim17/Tim22/Tim23/Pmp24 family (68 - 193)

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

mitochondrial import inner membrane translocase subunit Tim22

testis-expressed protein 4

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 43

COXPD43

Combined Oxidative Phosphorylation Deficiency 18

Growth And Developmental Delay-Hypotonia-Vision Impairment-Lactic Acidosis Syndrome

COXPD18

Combined Oxidative Phosphorylation Deficiency, Type 18

Omodysplasia 2

OMOD2

Omodysplasia, Autosomal Dominant

Autosomal Dominant Omodysplasia

Omodysplasia Type 2

Omodysplasia, Type 2

Noonan Syndrome-Like Disorder With Loose Anagen Hair 2

NSLH2

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

Omodysplasia 1

OMOD1

Autosomal Recessive Omodysplasia

Omodysplasia Autosomal Recessive

Omodysplasia Generalized Form

Omodysplasia Type 1

Omodysplasia, Generalized Form

Omodysplasia, Autosomal Recessive

Micromelic Dysplasia, Congenital, With Dislocation Of Radius

Micromelic Dysplasia Congenita With Dislocation Of Radius

Micromelic Dysplasia-Dislocation Of Radius Syndrome

Micromelic Dysplasia Congenital With Dislocation Of Radius

Omodysplasia, Type 1

Omodysplasia

Omodysplasia Type 1

Omodysplasia 2

Myopathy

Muscular Diseases

Myopathies

Gastroesophageal Reflux

Gastroesophageal Reflux Disease

Gerd

GER

Gastroesophageal Reflux, Pediatric

Acid Reflux

Gastresophageal Reflux

Gastro-Esophageal Reflux

Gerd - Gastro-Esophageal Reflux Disease

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
Bos taurus TIMM22 VGNC VGNC:49575
Mus musculus TIMM22 MGD MGI:1929742
Canis familiaris TIMM22 VGNC VGNC:49097
Rattus norvegicus TIMM22 RGD RGD:68406
Felis catus TIMM22 VGNC VGNC:99557
Macaca mulatta TIMM22 VGNC VGNC:99299