USH2A Rabbit Polyclonal Antibody, 20ul Recombinant Ab Production May play an important role

May play an important role in the regulation of pre-mRNA splicing

and axial and limb hypotonia

The encoded protein has also been shown to transport anticancer drugs like bleomycin (PMID: 20037140) successful treatment has been correlated with the level of activity of this transporter in tumor cells

nuclear positioning

Proteins encoded by this gene superfamily possess a chromodomain

USH2A Rabbit Polyclonal Antibody, 20ul Recombinant Ab Production May play an important roleThis gene encodes a protein that contains laminin EGF motifs a pentaxin domain and many fibronectin type III motifs. The protein is found in the basement membrane and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene.