CAYP1 Rabbit Polyclonal Antibody, 50ul Cell Culture & Maintenance Mutations in PDHA1 are associated

Mutations in PDHA1 are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome

an autosomal recessive disease associated with a susceptibility to pyogenic infections

Fibroblast growth factor 2 encoded by FGF2 is a member of the fibroblast growth factor (FGF) family

Other alternative splice variants have been described but their full length sequence has not been determined

CAYP1 Rabbit Polyclonal Antibody, 50ul Cell Culture & Maintenance Mutations in PDHA1 are associatedThis gene encodes a calcium binding protein, which may play a role in the regulation of ion transport. A similar protein was first described as a potentially important regulatory protein in the dog thyroid and was termed as R2D5 antigen in rabbit. Alternative splicing of this gene generates two transcript variants.