TIMM8A

This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2009]

Description

Translocase of inner mitochondrial membrane 8A

Tissue specificity

Low tissue specificity

Subcell location

Mitochondria

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X:q22.1 (101345661 - 101348742)

Ensembl ID

ENSG00000126953  (ver. 103.38)

Orthologs

-

UniProt

O60220

neXtProt

NX_O60220

Human splice variants