CK17 Monoclonal Antibody(10A1), 50ul Capsule Filter conotruncal heart defects and facial

conotruncal heart defects and facial dysmorphology

Mutations in TNNI3 cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM)

It also plays a role in clustering of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)-type glutamate receptors at established synapses

The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors

Paired related homeobox 1 regulates muscle creatine kinase

CK17 Monoclonal Antibody(10A1), 50ul Capsule Filter conotruncal heart defects and facialMutations in this gene lead to Jackson Lawler type pachyonychia congenita and steatocystoma multiplex.