Gene: COQ4

Alternate names for this Gene: CGI-92|COQ10D7

Gene Summary: 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.11

Description of this Gene: coenzyme Q4

Type of Gene: protein-coding

Gene: TRUB2

Alternate names for this Gene: CLONE24922

Gene Summary: Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008].

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.11

Description of this Gene: TruB pseudouridine synthase family member 2

Type of Gene: protein-coding

rs767839639 in COQ4;TRUB2 gene and COENZYME Q10 DEFICIENCY, PRIMARY, 7 PMID 25658047 2015 COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.

PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.