UQCC Rabbit Polyclonal Antibody, 100ul Serological Pipets Mutations in this gene are

Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD)

Mutations in this gene cause nephronophthisis (NPHP)| an autosomal recessive kidney disease characterized by tubular basement membrane disruption| interstitial lymphohistiocytic cell infiltration| and development of cysts at the corticomedullary border of the kidneys

The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure

The protein encoded by this gene is recognized by sperm agglutinating antibodies from an infertile woman

Regulator of G-protein signaling 1 is located on the cytosolic side of the plasma membrane and contains a conserved

UQCC Rabbit Polyclonal Antibody, 100ul Serological Pipets Mutations in this gene areThis gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants.