PPCS wt Allele

Preferred Label : PPCS wt Allele;

NCIt synonyms : COAB; Phosphopantothenoylcysteine Synthetase wt Allele; FLJ11838; CMD2C;

NCIt definition : Human PPCS wild-type allele is located in the vicinity of 1p34.2 and is approximately 17 kb in length. This allele, which encodes phosphopantothenate-cysteine ligase protein, plays a role in the synthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5). Mutations in the gene are associated with dilated cardiomyopathy 2C.;

NCI Metathesaurus CUI : CL1927349;

GenBank Accession Number : AK021900;

Details

Origin ID

C204870;

OMIM relation
- Phosphopantothenoylcysteine synthetase [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Pantothenate and CoA Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Nucleotide Biosynthesis Process [NCIt concept]

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