ACO2 Polyclonal Antibody, 50ul Palm Micro Centrifuges Freeman-Sheldon syndrome and Sheldon-Hall syndrome

Freeman-Sheldon syndrome and Sheldon-Hall syndrome

This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria

Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11)

which is found in a gene cluster at chromosomal region 19q13

Alternative splicing results in two transcript variants encoding distinct isoforms

ACO2 Polyclonal Antibody, 50ul Palm Micro Centrifuges Freeman-Sheldon syndrome and Sheldon-Hall syndromeThe protein encoded by this gene belongs to the aconitase IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after