LYRM7

Inner mitochondrial membrane complex III (CIII) is the main enzyme complex in the mitochondrial respiratory chain, and Rieske Fe-S protein (UQCRFS1) is the last catalytic subunit added to the complex. The protein encoded by this gene is a nuclear-encoded mitochondrial matrix protein that stabilizes UQCRFS1 and chaperones it to the CIII complex. Defects in this gene are a cause of mitochondrial complex III deficiency, nuclear type 8. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

Description

LYR motif containing 7

Tissue specificity

Tissue enhanced (tongue)

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

5 (131170944 - 131205428)

Ensembl ID

ENSG00000186687  (ver. 103.38)

Orthologs

Mouse Lyrm7: ENSMUSG00000020268

UniProt

Q5U5X0

neXtProt

NX_Q5U5X0

Human splice variants
Mouse splice variants

Protein structure