PYK2 Monoclonal Antibody, 50ul[BT-MCA1078] PCR Series Mutations in COL3A1 are associated

Mutations in COL3A1 are associated with Ehlers-Danlos syndrome types IV

which are both heart malformation diseases

The preproprotein encoded by CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1) is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex

The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction

Homeobox protein Hox-D3 encoded by this gene may play a role in the regulation of cell adhesion processes

PYK2 Monoclonal Antibody, 50ul[BT-MCA1078] PCR Series Mutations in COL3A1 are associatedThis gene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and