REPS2 Polyclonal Antibody, 50ul Vacuum Filter It is enriched in the

It is enriched in the basement membrane of muscles at the neuromuscular junctions

CFI encodes a serine proteinase that is essential for regulating the complement cascade

Mutations in this gene are a cause of hypomyelinating leukodystrophy

Nucleotide variation in this gene has been associated with hypogonadotropic hypogonadism 17 with or without anosmia

while the N-terminal of the recombination activating gene 2 component is thought to form a six-bladed propeller in the active core that serves as a binding scaffold for the tight association of the complex with DNA

REPS2 Polyclonal Antibody, 50ul Vacuum Filter It is enriched in theThe product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors. The encoded protein directly interacts with a GTPase activating protein that functions downstream of the small G protein Ral. Its expression can negatively affect receptor internalization and inhibit growth factor signaling. Multiple transcript variants encoding different isoforms have been found for this gene.