TIMM8A
entrez
1678
canonical
uniprot
O60220
canonical
ensembl
ENSG00000126953
resolver
ensp
ENSP00000361993
resolver
ensp
ENSP00000494239
resolver
ensp
ENSP00000494385
resolver
enst
ENST00000372902
resolver
enst
ENST00000644112
resolver
enst
ENST00000645279
resolver
genesymbol
TIMM8A
resolver
genesymbol_syn
DDP
resolver
genesymbol_syn
DDP1
resolver
genesymbol_syn
TIM8A
resolver
hgnc
HGNC:11817
resolver
uniprot
A0A2R8YDA8
resolver
uniprot
B2R5A6
resolver
uniprot
Q6IRW6
resolver
uniprot_entry
A0A2R8YDA8_HUMAN
resolver
uniprot_entry
TIM8A_HUMAN
resolver
uniprot_sec
B2R5A6
resolver
uniprot_sec
Q6IRW6
resolver
amino_acid_sequence
MDSSSSSSAAGLGAVDPQLQHFIEVETQKQRFQQLVHQMTELCWEKCMDKPGPKLDSRAEACFVNCVERFIDTSQFILNRLEQTQKSKPVFSESLSD
uniprot
proteins
disease_involvement
DISEASE: Mohr-Tranebjaerg syndrome (MTS) [MIM:304700]: An X-linked recessive disorder characterized by postlingual sensorineural deafness with onset in early childhood, dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness. {ECO:0000269|PubMed:10878669, ECO:0000269|PubMed:11803487, ECO:0000269|PubMed:11875042, ECO:0000269|PubMed:11956200}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins. Probably necessary for normal neurologic development. {ECO:0000269|PubMed:11489896, ECO:0000269|PubMed:15254020}.
uniprot
proteins
mass_dalton
10998
uniprot
proteins
protein_family
Small Tim family
uniprot
proteins
pubmed
10051550
uniprot
proteins
pubmed
10051608
uniprot
proteins
pubmed
10878669
uniprot
proteins
pubmed
11489896
uniprot
proteins
pubmed
11803487
uniprot
proteins
pubmed
11875042
uniprot
proteins
pubmed
11956200
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15254020
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
8841189
uniprot
proteins
sequence_length
97
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:11489896}; Peripheral membrane protein {ECO:0000269|PubMed:11489896}; Intermembrane side {ECO:0000269|PubMed:11489896}.
uniprot
proteins