OPA1 Polyclonal Antibody, 20ul Micro Centrifuge Tubes Mutations in this gene are

Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment

CBLN1 encodes a cerebellum-specific precursor protein

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Ser-376 and Ser-212 are autophosphorylated by the C-terminal kinase domain

OPA1 Polyclonal Antibody, 20ul Micro Centrifuge Tubes Mutations in this gene areThis gene product is a nuclear encoded mitochondrial protein with similarity to dynamin related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Multiple transcript variants encoding different isoforms have been found for this gene.