COQ4 gene

coenzyme Q4

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

From NCBI Gene:

This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appears to play a structural role in stabilizing a complex that contains most of the coenzyme Q biosynthesis enzymes. Mutations in this gene are associated with mitochondrial disorders linked to coenzyme Q deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

From UniProt:

Component of the coenzyme Q biosynthetic pathway. May play a role in organizing a multi-subunit COQ enzyme complex required for coenzyme Q biosynthesis. Required for steady-state levels of other COQ polypeptides.

From NCBI Gene:

  • Coenzyme Q10 deficiency, primary, 7

From UniProt:

Coenzyme Q10 deficiency, primary, 7 (COQ10D7): An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10, and severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rarely, symptoms may have later onset. [MIM:616276]

Cytogenetic Location: 9q34.11, which is the long (q) arm of chromosome 9 at position 34.11

Molecular Location: base pairs 128,322,486 to 128,334,072 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q34.11, which is the long (q) arm of chromosome 9 at position 34.11
  • CGI-92
  • COQ10D7