Basic Information

Symbol
TIMM8A
RNA class
mRNA
Alias
Translocase Of Inner Mitochondrial Membrane 8A DDP MTS Mitochondrial Import Inner Membrane Translocase Subunit Tim8 A X-Linked Deafness Dystonia Protein Deafness Dystonia Protein 1 DDP1 DFN1 Translocase Of Inner Mitochondrial Membrane 8 (Yeast) Homolog A Translocase Of Inner Mitochondrial Membrane 8 Homolog A (Yeast) Translocase Of Inner Mitochondrial Membrane 8 Homolog A Deafness/Dystonia Peptide TIM8A TIM8
Location (GRCh38)
X:101345652-101349001
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_004085.4
Sequence length
1210.0 nt
GC content
0.4198

Transcripts

ID Sequence Length GC content
NM_001145951.2 NCBI
AGCUGUGGUUCCGGUUCCGUCGCGGAGACACGUGAAGGUCGGUGCGGAG… 2951 nt 0.4290
NM_004085.4 NCBI
AGCUGUGGUUCCGGUUCCGUCGCGGAGACACGUGAAGGUCGGUGCGGAG… 1210 nt 0.4198
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]

Forensic Context

No relevant information is available at the moment.