CD6 Polyclonal Antibody, 50ul[BT-AP02025] Variant Libraries Three subfamilies of human BTN

Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e

The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis

This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains

Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder

It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues

CD6 Polyclonal Antibody, 50ul[BT-AP02025] Variant Libraries Three subfamilies of human BTNThe cyclic nucleotide gated channel alpha 1 encoded by CNGA1 is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different