" /> SDHA wt Allele - CISMeF





Preferred Label : SDHA wt Allele;

NCIt synonyms : CMD1GG; SDH2; SDHF; SDH1; FP; PGL5; Succinate Dehydrogenase Complex, Subunit A, Flavoprotein (Fp) wt Allele;

NCIt definition : Human SDHA wild-type allele is located in the vicinity of 5p15 and is approximately 38 kb in length. This allele, which encodes succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial protein, plays a role in cellular respiration. Mutation of the gene is associated with both mitochondrial complex II deficiency and cardiomyopathy dilated type 1GG.;

NCIt note : Mutation of the SDHA gene may be associated with Leigh syndrome, a condition that co-occurs with the deficiency of any of the mitochondrial respiratory chain complexes. (OMIM);

GenBank Accession Number : BC001380;

Details


Keyword's position in hierarchy(ies) : arborescence

You can consult :


Nous contacter.
15/05/2024


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.