• Gene id: 1678

Gene Summary

• Gene Symbol: TIMM8A   Gene   UCSC   Ensembl
• Aliases: DDP, DDP1, DFN1, MTS, TIM8
• Gene name: translocase of inner mitochondrial membrane 8A
• Alternate names: 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,
• Gene location: Xq22.1 (101348741: 101345660)     Exons: 2     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 300356

Protein Summary

• Protein general information: O60220  
  • Name: Mitochondrial import inner membrane translocase subunit Tim8 A (Deafness dystonia protein 1) (X linked deafness dystonia protein)
  • Length: 97  
  • Mass: 10998
  • Tissue specificity: Highly expressed in fetal and adult brain, followed by fetal lung, liver and kidney. Also expressed in heart, placenta, lung, liver, kidney, pancreas, skeletal muscle and heart.
• Sequence:

  MDSSSSSSAAGLGAVDPQLQHFIEVETQKQRFQQLVHQMTELCWEKCMDKPGPKLDSRAEACFVNCVERFIDTSQ
  FILNRLEQTQKSKPVFSESLSD

• Structural information:
  • Interpro: IPR004217  IPR035427  IPR039238  
  • STRING: ENSP00000361993
• Other Databases: GeneCards:  TIMM8A  Malacards:  TIMM8A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0072321	chaperone-mediated protein transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0072321	chaperone-mediated protein transport	TAS	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	HDA	cellular component

Diseases

Associated diseases	References
Mohr-Tranebjaerg syndrome	KEGG:H00989
Jensen syndrome	KEGG:H01201
Mohr-Tranebjaerg syndrome	KEGG:H00989
Jensen syndrome	KEGG:H01201
Deafness-dystonia-optic neuronopathy syndrome	PMID:11601506
Deafness-dystonia-optic neuronopathy syndrome	PMID:15710860
Deafness-dystonia-optic neuronopathy syndrome	PMID:17471106
Dystonia	PMID:11601506
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881