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TIMM8A (translocase of inner mitochondrial membrane 8A)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1678
Gene nameGene Name - the full gene name approved by the HGNC.
Translocase of inner mitochondrial membrane 8A
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TIMM8A
SynonymsGene synonyms aliases
DDP, DDP1, DFN1, MTS, TIM8
ChromosomeChromosome number
X
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq22.1
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs1054894 G>A Pathogenic Stop gained, 3 prime UTR variant, coding sequence variant
rs80356559 G>A Pathogenic Coding sequence variant, stop gained
rs80356560 G>C Pathogenic Coding sequence variant, 3 prime UTR variant, missense variant
rs111033631 C>A,G Pathogenic Coding sequence variant, stop gained, missense variant
rs863224234 G>A Likely-pathogenic Stop gained, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT000053 hsa-miR-375 Luciferase reporter assay 19734348
MIRT000053 hsa-miR-375 Immunohistochemistry, Luciferase reporter assay, Microarray, Northern blot, qRT-PCR 19807270
MIRT000053 hsa-miR-375 Immunohistochemistry, Luciferase reporter assay, Microarray, Northern blot, qRT-PCR 19807270
MIRT020870 hsa-miR-155-5p Proteomics 18668040
MIRT028557 hsa-miR-30a-5p Proteomics 18668040
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11956200, 25416956, 25910212, 32296183, 32814053
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005739 Component Mitochondrion IDA
GO:0005743 Component Mitochondrial inner membrane IEA
GO:0005758 Component Mitochondrial intermembrane space IDA 14726512
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID O60220
Protein name Mitochondrial import inner membrane translocase subunit Tim8 A (Deafness dystonia protein 1) (X-linked deafness dystonia protein)
Protein function Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02953 zf-Tim10_DDP
21 → 83
Tim10/DDP family zinc finger
 Domain
Sequence
Sequence length 97
Interactions View interactions
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Agammaglobulinemia Agammaglobulinemia rs2134166251, rs128620183, rs128620185, rs128621193, rs128621201, rs128621204, rs121912424, rs267606711, rs376256147, rs281865422, rs1600631593, rs1555843601, rs267606871, rs879255271, rs2142904392, rs1555976766, rs1555977461, rs1555977580, rs1555977592, rs1555977598, rs1555978024, rs1555978197, rs1555978277, rs1555978891, rs1555980049, rs1555980799, rs1555980866, rs1554906579, rs1568801716, rs1565638431, rs2095906547, rs2095906404
Apraxia Apraxias rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs120074176, rs786205019
Myopia Myopia rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Unknown
Disease name Disease term dbSNP ID References
Central visual impairment Central visual impairment
Dementia Dementia
Disorder of eye Disorder of eye
Dysarthria Dysarthria

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