LYRM7
entrez
90624
canonical
uniprot
Q5U5X0
canonical
ensembl
ENSG00000186687
resolver
ensp
ENSP00000368688
resolver
ensp
ENSP00000423991
resolver
enst
ENST00000379380
resolver
enst
ENST00000507584
resolver
genesymbol
LYRM7
resolver
genesymbol_syn
C5orf31
resolver
genesymbol_syn
MZM1L
resolver
hgnc
HGNC:28072
resolver
uniprot
A8MPQ9
resolver
uniprot
D6RBV5
resolver
uniprot
Q86Y68
resolver
uniprot_entry
D6RBV5_HUMAN
resolver
uniprot_entry
LYRM7_HUMAN
resolver
uniprot_sec
A8MPQ9
resolver
uniprot_sec
Q86Y68
resolver
amino_acid_sequence
MGRAVKVLQLFKTLHRTRQQVFKNDARALEAARIKINEEFKNNKSETSSKKIEELMKIGSDVELLLRTSVIQGIHTDHNTLKLVPRKDLLVENVPYCDAPTQKQ
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex III deficiency, nuclear type 8 (MC3DN8) [MIM:615838]: A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. {ECO:0000269|PubMed:24014394}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Assembly factor required for Rieske Fe-S protein UQCRFS1 incorporation into the cytochrome b-c1 (CIII) complex. Functions as a chaperone, binding to this subunit within the mitochondrial matrix and stabilizing it prior to its translocation and insertion into the late CIII dimeric intermediate within the mitochondrial inner membrane. {ECO:0000269|PubMed:23168492}.
uniprot
proteins
mass_dalton
11955
uniprot
proteins
protein_family
Complex I LYR family
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23168492
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24014394
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
104
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:23168492}.
uniprot
proteins