2. Gene
  3. TIMM13 - translocase of inner mitochondrial membrane 13 Gene

TIMM13 - translocase of inner mitochondrial membrane 13 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ppv1; TIM13; TIM13B; TIMM13A; TIMM13B

Gene ID: 26517 | Gene type: protein coding

About TIMM13

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:2,425,625-2,427,586 (from NCBI)

This gene has 2 transcripts (splice variants) and 199 orthologues. Ubiquitous expression in kidney (RPKM 14.4), colon (RPKM 14.1) and 25 other tissues.

Summary

This gene encodes a member of the evolutionarily conserved TIMM (translocase of inner mitochondrial membrane) family of proteins that function as chaperones in the import of proteins from the cytoplasm into the mitochondrial inner membrane. Proteins of this family play a role in collecting substrate proteins from the translocase of the outer mitochondrial membrane (TOM) complex and delivering them to either the sorting and assembly machinery in the outer mitochondrial membrane (SAM) complex or the TIMM22 complex in the inner mitochondrial membrane. The encoded protein and the translocase of mitochondrial inner membrane 8a protein form a 70 kDa complex in the intermembrane space. [provided by RefSeq, Jul 2013]

TIMM13 Products(1)

mRNA Protein Name
NM_012458.4 NP_036590.1 mitochondrial import inner membrane translocase subunit Tim13

TIMM13 Protein Structure

zf-Tim10_DDP

zf-Tim10_DDP: Tim10/DDP family zinc finger (23 - 87)

  • 0
  • 95 a.a.
Protein Preferred Names Protein Names

mitochondrial import inner membrane translocase subunit Tim13

mitochondrial import inner membrane translocase subunit Tim13B

Related Diseases

Diseases Alias
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
Visual Cortex Disease

Visual Cortex Dysfunction

Visual Cortex Disorder

Visual Cortical Disorder

Disease Of Visual Cortex
Visual Pathway Disease

Disorder Of Visual Pathways
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy

Dominant Optic Atrophy Plus Syndrome

DOA+

Adoa

Autosomal Dominant Optic Atrophy

Doa

Optic Atrophy Plus Syndrome

Dominant Optic Atrophy

Optic Atrophy With Or Without Deafness Ophthalmoplegia Myopathy Ataxia And Neuropathy

Optic Atrophy, Dominant

3-Methylglutaconic Aciduria Type 3

Optic Atrophy, Autosomal Dominant
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
Cortical Blindness

Blindness, Cortical
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
3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy
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-RS14528 TIMM13 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus TIMM13 VGNC VGNC:52893
Felis catus TIMM13 VGNC VGNC:102715
Mus musculus TIMM13 MGD MGI:1353432
Rattus norvegicus TIMM13 RGD RGD:628845