S2546 Rabbit Polyclonal Antibody, 100ul Serum Mutations in this gene have

Mutations in this gene have been shown to cause an X-linked dominant STAR syndrome that typically manifests syndactyly

which was reported to interact with 26S proteasome

developmental stage:Expressed in early stage of myeloid and erythroid differentiation

The protein encoded by this gene protects against death receptor-triggered apoptosis and regulates B-cell signaling and differentiation

each encoding a distinct carboxyl terminus

S2546 Rabbit Polyclonal Antibody, 100ul Serum Mutations in this gene haveThis gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy.