NIPA1 Polyclonal Antibody, 50ul Centrifuges encephalomyopathies

encephalomyopathies

Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome

Mutations in CAV1 have been associated with Berardinelli-Seip congenital lipodystrophy

Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB)

NIPA1 Polyclonal Antibody, 50ul Centrifuges encephalomyopathiesThis gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6.