Annexin II Polyclonal Antibody, 50ul[BT-AP00460] Protein Analysis Mutations in CEP57 cause mosaic

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

TBX1 is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain

Tetramer composition varies depending on tissue type

This gene encodes an intermediary protein necessary in the virus-triggered beta interferon signaling pathways

which is a minor (5-20%) collagen component of hyaline cartilage

Annexin II Polyclonal Antibody, 50ul[BT-AP00460] Protein Analysis Mutations in CEP57 cause mosaicANXA2 encodes a member of the annexin family. Members of this calcium dependent phospholipid binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. ANXA2 has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different