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

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 encoded protein interacts with other SR proteins to modulate splice site selection

PTM:Phosphorylated

Has an ATP-independent isopeptidase activity

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

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