UNC5D Polyclonal Antibody, 20ul Yeast Expression Mutations in several of the

Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome

This gene is regulated as part of the p53 tumor suppressor pathway and encodes a protein with sequence similarity to the bisphosphate domain of the glycolytic enzyme that degrades fructose-2

Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy

This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene

Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms

UNC5D Polyclonal Antibody, 20ul Yeast Expression Mutations in several of theReceptor for netrin. May be involved in axon guidance by mediating axon repulsion of neuronal growth cones in the developing nervous system upon ligand binding. Axon repulsion in growth cones may be caused by its association with DCC that may trigger signaling for repulsion. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand.,PTM: Phosphorylated on cytoplasmic tyrosine residues.,PTM: