CE104 Rabbit Polyclonal Antibody, 100ul Metabolic enzymes In humans| polymorphisms in this

In humans| polymorphisms in this gene are associated with variation in human height and osteoarthritis

This gene is a member of the junctophilin gene family

and the testis

and appears to act as a negative regulator of cytoskeletal organization leading to loss of adhesion

Two transcript variants| one protein-coding and the other non-protein coding| have been found for this gene

CE104 Rabbit Polyclonal Antibody, 100ul Metabolic enzymes In humans| polymorphisms in thisThis gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino terminal hydrophobic domains, two glycosylation sites, four cysteine rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium.