SDHF1 Rabbit Polyclonal Antibody, 50ul Serum & Sample Tubes Mutations in this gene are

Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC)

a similar protein regulates the gamma-crystallin genes and is essential for lens development

MIM 165390)

Variations in GPR126 can affect a person's stature

CHPF2 (Chondroitin Polymerizing Factor 2) is a Protein Coding gene

SDHF1 Rabbit Polyclonal Antibody, 50ul Serum & Sample Tubes Mutations in this gene areThe succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria and is essential for SDH assembly but does not physically associate with the complex in vivo. Mutations in this gene are associated with SDH defective infantile leukoencephalopathy (mitochondrial complex II deficiency).