ZPR1 Rabbit Polyclonal Antibody, 20ul Glassware Mutations in this gene are

Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6

a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage

This protein contains a domain similar to the microtubule-binding domains of neuronal microtubule-associated protein (MAP2) and microtubule-associated protein tau (MAPT/TAU)

SLC22A18 is imprinted

ZPR1 Rabbit Polyclonal Antibody, 20ul Glassware 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.