Gene: CCDC127

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 5

Location in Chromosome : 5p15.33

Description of this Gene: coiled-coil domain containing 127

Type of Gene: protein-coding

Gene: SDHA

Alternate names for this Gene: CMD1GG|FP|PGL5|SDH1|SDH2|SDHF

Gene Summary: This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5p15.33

Description of this Gene: succinate dehydrogenase complex flavoprotein subunit A

Type of Gene: protein-coding

rs1061517 in CCDC127;SDHA gene and Mitochondrial Complex II Deficiency PMID 15989954 2005 Crystal structure of mitochondrial respiratory membrane protein complex II.

PMID 25488574 2016 Protein-mediated assembly of succinate dehydrogenase and its cofactors.

PMID 21858060 2011 Succinate dehydrogenase is a direct target of sirtuin 3 deacetylase activity.

PMID 10746566 2000 Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.

PMID 26722403 2015 A novel germline mutation in SDHA identified in a rare case of gastrointestinal stromal tumor complicated with renal cell carcinoma.

rs1061517 in CCDC127;SDHA gene and Neoplastic Syndromes, Hereditary PMID 26334176 2016 Expanded genetic screening panel for the Ashkenazi Jewish population.

rs1061517 in CCDC127;SDHA gene and PARAGANGLIOMAS 5 PMID 15989954 2005 Crystal structure of mitochondrial respiratory membrane protein complex II.

PMID 10746566 2000 Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.

PMID 26722403 2015 A novel germline mutation in SDHA identified in a rare case of gastrointestinal stromal tumor complicated with renal cell carcinoma.

PMID 25488574 2016 Protein-mediated assembly of succinate dehydrogenase and its cofactors.

PMID 21858060 2011 Succinate dehydrogenase is a direct target of sirtuin 3 deacetylase activity.