TIMM8A

TIMM8A
Identifiers
Aliases	TIMM8A, DDP, DDP1, DFN1, MTS, TIM8, translocase of inner mitochondrial membrane 8 homolog A (yeast), translocase of inner mitochondrial membrane 8A
External IDs	MGI: 1353433 HomoloGene: 37878 GeneCards: TIMM8A
Gene location (Human) Chr. X chromosome (human) Band No data available Start 101,345,661 bp End 101,349,196 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band No data available Start 134,537,256 bp End 134,541,865 bp
RNA expression pattern More reference expression data
Gene ontology Molecular function • protein binding • metal ion binding Cellular component • mitochondrial inner membrane • mitochondrial intermembrane space • mitochondrion • membrane Biological process • protein transport • chaperone-mediated protein transport • nervous system development • transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	1678	30058
Ensembl	ENSG00000126953	ENSMUSG00000048007
UniProt	O60220	Q9WVA2
RefSeq (mRNA)	NM_032696 NM_001145951 NM_004085	NM_013898
RefSeq (protein)	NP_001139423 NP_004076	NP_038926
Location (UCSC)	Chr X: 101.35 – 101.35 Mb	Chr X: 134.54 – 134.54 Mb
PubMed search

1678

30058

ENSG00000126953

ENSMUSG00000048007

O60220

Q9WVA2

NM_032696
NM_001145951
NM_004085

NM_013898

NP_001139423
NP_004076

NP_038926

Mitochondrial import inner membrane translocase subunit Tim8 A is an enzyme that in humans is encoded by the TIMM8A gene.

This translocase has similarity to yeast proteins that are involved in the import of metabolite transporters from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Deafness-dystonia syndrome (or Mohr-Tranebjaerg syndrome; MTS/DFN-1) and it is postulated that MTS/DFN-1 is a mitochondrial disease caused by a defective mitochondrial protein import system.

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