ZPR1 Rabbit Polyclonal Antibody, 20ul Glassware Mutations in MTR have been

Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G

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

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

ZPR1 Rabbit Polyclonal Antibody, 20ul Glassware Mutations in MTR have beenThe 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.