TIMM8B - translocase of inner mitochondrial membrane 8 homolog B Gene

Also Known as DDP2; TIM8B

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26521

About TIMM8B

Cytogenetic location: 11q23.1 Genomic coordinates (GRCh38): 11:112,084,800-112,086,756 (from NCBI)

This gene has 4 transcripts (splice variants), 204 orthologues and 1 paralogue. Ubiquitous expression in heart (RPKM 16.7), colon (RPKM 15.7) and 25 other tissues.

Summary

This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into complexes, these proteins guide membrane-spanning proteins across the mitochondrial intermembrane space before they are added into the mitochondrial inner membrane. This gene is adjacent to Succinate Dehydrogenase, subunit D (SDHD), in which mutations have been found in affected members of families with hereditary paraganglioma.[provided by RefSeq, Aug 2009]

TIMM8B Products (1)

mRNA Protein Name
NM_012459.4 NP_036591.3 mitochondrial import inner membrane translocase subunit Tim8 B

TIMM8B Protein Structure

zf-Tim10_DDP

zf-Tim10_DDP: Tim10/DDP family zinc finger (13 - 76)

  • 0
  • 83 a.a.
Protein Preferred Names Protein Names

mitochondrial import inner membrane translocase subunit Tim8 B

  • DDP-like protein

Related Diseases

Diseases Alias
Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

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

Paraganglioma
  • Chemodectoma

  • Glomus Body Tumor

  • Paragangliomas

  • Carotid Body Paraganglioma

  • Extra-Adrenal Paraganglioma

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 TIMM8B VGNC VGNC:66191
Mus musculus TIMM8B MGD MGI:1353424
Bos taurus TIMM8B VGNC VGNC:54899
Rattus norvegicus TIMM8B RGD RGD:619840
Canis familiaris TIMM8B VGNC VGNC:49624
Others TIMM8B NCBI