NIPA1 Polyclonal Antibody, 50ul Centrifuges Mutations in CAV1 have been

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

It functions as an organizer of a number of critical proteins involved in attachment| migration| and cell signaling

Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged

This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region

NIPA1 Polyclonal Antibody, 50ul Centrifuges Mutations in CAV1 have beenThis 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.