OPSB Polyclonal Antibody, 20ul Vacuum Aspirator Mutations in this gene are

Mutations in this gene are associated with 2 neurologic disorders

one protein-coding and the other not

Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes

and is involved in the regulation of fat metabolism

a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53

OPSB Polyclonal Antibody, 20ul Vacuum Aspirator Mutations in this gene areThis gene belongs to the G protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic.