MYBPC3 Polyclonal Antibody, 100ul Mechanical Pipette Mutations in GNPAT are associated

Mutations in GNPAT are associated with rhizomelic chondrodysplasia punctata

Many alternatively spliced transcript variants encoding different isoforms have been described for this gene

Contains 1 SAM (sterile alpha motif) domain

H2AFZ encodes a replication-independent member of the histone H2A family that is distinct from other members of the family

Mutations in this gene cause selective T-cell defect| a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells

MYBPC3 Polyclonal Antibody, 100ul Mechanical Pipette Mutations in GNPAT are associatedMYBPC3 encodes the cardiac isoform of myosin binding protein C. Myosin binding protein C is a myosin associated protein found in the cross bridge bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction.