EDA Polyclonal Antibody, 50ul Reagent Reservoirs Mutations in this gene result

Mutations in this gene result in malonyl-CoA decarboyxlase deficiency

thus| it functions as a regulator of a wide variety of downstream proteins| including tumor suppressor proteins p53 and BRCA1| checkpoint kinase CHK2| checkpoint proteins RAD17 and RAD9| and DNA repair protein NBS1

Mutations in ARHGEF10 are associated with slowed nerve conduction velocity (SNCV)

It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer's disease

The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins

EDA Polyclonal Antibody, 50ul Reagent Reservoirs Mutations in this gene resultThe protein encoded by EDA (ectodysplasin A) is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell cell signaling during the development of ectodermal organs. Defects in EDA are a cause of ectodermal dysplasia, anhidrotic, which is also known as X linked hypohidrotic ectodermal dysplasia. Several