LYRM7 gene

LYR motif containing 7

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Mitochondrial complex III deficiency, nuclear type 8

From UniProt:

Mitochondrial complex III deficiency, nuclear 8 (MC3DN8): 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. [MIM:615838]

Cytogenetic Location: 5q23.3-q31.1, which is the long (q) arm of chromosome 5 between positions 23.3 and 31.1

Molecular Location: base pairs 131,170,914 to 131,205,426 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q23.3-q31.1, which is the long (q) arm of chromosome 5 between positions 23.3 and 31.1
  • C5orf31
  • MC3DN8
  • MZM1L