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TIMM8A translocase of inner mitochondrial membrane 8A

Gene ID: 1678, updated on 5-Jan-2022
Gene type: protein coding
Also known as: DDP; MTS; DDP1; DFN1; TIM8

Summary

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]

Copy number response

Description
Copy number response
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-03-24)

ClinGen Genome Curation PagePubMed
Triplosensitivity

No evidence available (Last evaluated 2021-03-24)

ClinGen Genome Curation Page

Genomic context

Location:
Xq22.1
Sequence:
Chromosome: X; NC_000023.11 (101345661..101348742, complement)
Total number of exons:
2

Links

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