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
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
rs1554796655 in
TRUB2;COQ4 gene and
COENZYME Q10 DEFICIENCY, PRIMARY, 7
PMID 26185144 2015 Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.
PMID 25658047 2015 COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
rs758522459 in
TRUB2;COQ4 gene and
Dysmorphic features
PMID 24270420 2013 ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
PMID 22368301 2012 Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
PMID 16116126 2005 Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.
PMID 25658047 2015 COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
PMID 25126048 2014 Genetics of coenzyme q10 deficiency.
PMID 26185144 2015 Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.
PMID 28540186 2017 Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.
PMID 21540551 2011 COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
PMID 18579827 2008 Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency.
PMID 21844807 2011 Coenzyme Q deficiency in muscle.
PMID 18474229 2008 Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.
PMID 17332895 2007 Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.
PMID 17485248 2007 CoQ10 deficiency diseases in adults.
rs758522459 in
TRUB2;COQ4 gene and
Multiple congenital anomalies
PMID 25658047 2015 COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
PMID 24270420 2013 ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
PMID 21844807 2011 Coenzyme Q deficiency in muscle.
PMID 28540186 2017 Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.
PMID 21540551 2011 COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
PMID 25126048 2014 Genetics of coenzyme q10 deficiency.
PMID 16116126 2005 Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.
PMID 17485248 2007 CoQ10 deficiency diseases in adults.
PMID 22368301 2012 Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
PMID 26185144 2015 Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.
PMID 17332895 2007 Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.
PMID 18474229 2008 Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.
PMID 18579827 2008 Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency.