TMEM126A
entrez
84233
canonical
uniprot
Q9H061
canonical
ensembl
ENSG00000171202
resolver
ensp
ENSP00000306887
resolver
ensp
ENSP00000436590
resolver
genesymbol
TMEM126A
resolver
hgnc
HGNC:25382
resolver
uniprot
B2R570
resolver
uniprot
E9PI16
resolver
uniprot_entry
T126A_HUMAN
resolver
uniprot_sec
B2R570
resolver
uniprot_sec
E9PI16
resolver
amino_acid_sequence
MENHKSNNKENITIVDISRKINQLPEAERNLLENGSVYVGLNAALCGLIANSLFRRILNVTKARIAAGLPMAGIPFLTTDLTYRCFVSFPLNTGDLDCETCTITRSGLTGLVIGGLYPVFLAIPVNGGLAARYQSALLPHKGNILSYWIRTSKPVFRKMLFPILLQTMFSAYLGSEQYKLLIKALQLSEPGKEIH
uniprot
proteins
disease_involvement
DISEASE: Optic atrophy 7 with or without auditory neuropathy (OPA7) [MIM:612989]: A hereditary condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA7 is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disk pallor, and central scotoma. Some patients manifest hearing loss. {ECO:0000269|PubMed:19327736, ECO:0000269|PubMed:20405026, ECO:0000269|PubMed:22815638, ECO:0000269|PubMed:30961538, ECO:0000269|PubMed:31119195}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Protein required for the cotranslational protein quality control in the inner membrane of the mitochondria (PubMed:38199007). Associates with newly synthesized polypeptides and may act as a chaperone that cooperates with OXA1L for the insertion of newly synthesized mitochondrial proteins into the inner membrane (PubMed:38199007). Required for the assembly of the ND4 module of mitochondrial complex I (PubMed:33879611, PubMed:33882309). {ECO:0000269|PubMed:33879611, ECO:0000269|PubMed:33882309, ECO:0000269|PubMed:38199007}.
uniprot
proteins
mass_dalton
21527
uniprot
proteins
protein_family
TMEM126 family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
19327736
uniprot
proteins
pubmed
20405026
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22815638
uniprot
proteins
pubmed
23500070
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30961538
uniprot
proteins
pubmed
31119195
uniprot
proteins
pubmed
33879611
uniprot
proteins
pubmed
33882309
uniprot
proteins
pubmed
38199007
uniprot
proteins
sequence_length
195
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:19327736, ECO:0000269|PubMed:23500070, ECO:0000269|PubMed:38199007}; Multi-pass membrane protein {ECO:0000269|PubMed:19327736, ECO:0000269|PubMed:23500070}.
uniprot
proteins
transmembrane_region
TRANSMEM 34..54; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 57..77; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 111..131; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 159..175; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins