TMEM126B
entrez
55863
canonical
uniprot
Q8IUX1
canonical
ensembl
ENSG00000171204
resolver
ensp
ENSP00000351737
resolver
ensp
ENSP00000377039
resolver
ensp
ENSP00000433116
resolver
ensp
ENSP00000659367
resolver
genesymbol
TMEM126B
resolver
hgnc
HGNC:30883
resolver
uniprot
A8K535
resolver
uniprot
A8MSS0
resolver
uniprot
Q32Q09
resolver
uniprot
Q8WVU3
resolver
uniprot
Q96EP3
resolver
uniprot
Q9NZ29
resolver
uniprot_entry
T126B_HUMAN
resolver
uniprot_sec
A8K535
resolver
uniprot_sec
A8MSS0
resolver
uniprot_sec
Q32Q09
resolver
uniprot_sec
Q8WVU3
resolver
uniprot_sec
Q96EP3
resolver
uniprot_sec
Q9NZ29
resolver
amino_acid_sequence
MVVFGYEAGTKPRDSGVVPVGTEEAPKVFKMAASMHGQPSPSLEDAKLRRPMVIEIIEKNFDYLRKEMTQNIYQMATFGTTAGFSGIFSNFLFRRCFKVKHDALKTYASLATLPFLSTVVTDKLFVIDALYSDNISKENCVFRSSLIGIVCGVFYPSSLAFTKNGRLATKYHTVPLPPKGRVLIHWMTLCQTQMKLMAIPLVFQIMFGILNGLYHYAVFEETLEKTIHEE
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 29 (MC1DN29) [MIM:618250]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN29 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:27374773, ECO:0000269|PubMed:27374774}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: As part of the MCIA complex, involved in the assembly of the mitochondrial complex I (PubMed:27374773, PubMed:27374774, PubMed:32320651). Participates in constructing the membrane arm of complex I (PubMed:24191001). {ECO:0000269|PubMed:24191001, ECO:0000269|PubMed:27374773, ECO:0000269|PubMed:27374774, ECO:0000269|PubMed:32320651}.
uniprot
proteins
mass_dalton
25943
uniprot
proteins
protein_family
TMEM126 family
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24191001
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27374773
uniprot
proteins
pubmed
27374774
uniprot
proteins
pubmed
32320651
uniprot
proteins
pubmed
33753518
uniprot
proteins
sequence_length
230
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:24191001}; Multi-pass membrane protein {ECO:0000269|PubMed:24191001}.
uniprot
proteins
transmembrane_region
TRANSMEM 72..92; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 110..130; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 141..161; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 199..219; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins