CD300e Polyclonal Antibody, 100ul Metabolic enzymes Mutations in this gene are

Mutations in this gene are associated with retinitis pigmentosa

Mutations in TUFM have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy

Nucleoside-triphosphatase

60S ribosomal protein L36 belongs to the L36E family of ribosomal proteins

Mutations in CBX2 are also associated with gonadal dysgenesis in humans

CD300e Polyclonal Antibody, 100ul Metabolic enzymes Mutations in this gene areThis gene encodes a member of the CD300 glycoprotein family of cell surface proteins expressed on myeloid cells. The protein interacts with the TYRO protein tyrosine kinase binding protein and is thought to act as an activating receptor.