ZPR1 Rabbit Polyclonal Antibody, 100ul Immunology Mutations in this gene are

Mutations in this gene are found in patients diagnosed with Stargardt disease| a form of juvenile-onset macular degeneration

C1r B chain is a serine protease that combines with C1q and C1s to form C1

the major microtubule-organizing centers of animal cells

The protein thus belongs to the cytokine-induced STAT inhibitor (CIS)

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ZPR1 Rabbit Polyclonal Antibody, 100ul Immunology Mutations in this gene areThe protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene.