QuickView for Timm8a (gene)

Gene Symbol:

TIMM8A Homo sapiens

Full name:

translocase of inner mitochondrial membrane 8A

Synonyms:

DDP, DDP1, DFN1, MTS, TIM8, mitochondrial import inner membrane translocase subunit Tim8 A, X-linked deafness dystonia protein, deafness dystonia protein 1, deafness/dystonia peptide, translocase of inner mitochondrial membrane 8 homolog A

Genomic Location:

Chr X: 100487306-100490343

Description:

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 syst...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Gallus gallus ,  Danio rerio ,  Canis lupus familiaris ,  Bos taurus ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

RTAAACA_FREAC2_01 ,  PR_01 ,  MYCMAX_03 ,  CACGTG_MYC_Q2 ,  HFH1_01 ,  MAX_01 ,  GGGACCA_MIR133A_MIR133B ,  ARNT_02 ,  AR_02 ,  AGCATTA_MIR155 ,  MYCMAX_02 ,  GR_Q6 ,  GGAANCGGAANY_UNKNOWN ,  MYCMAX_01 ,  AGGTGCA_MIR500 ,  TGCCAAR_NF1_Q6 ,  HFH4_01 ,  USF_01 ,  CEBP_Q3 ,  CCGNMNNTNACG_UNKNOWN ,  USF_02

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-133 ,  Predicted Gene Targets for miR-539 ,  Predicted Gene Targets for miR-155 ,  Predicted Gene Targets for miR-375 ,  Predicted Gene Targets for miR-500

Cytogenetic Map:

Xq22.1

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