KIRR1 Polyclonal Antibody, 20ul Antibody Development Mutations in this gene cause

Mutations in this gene cause cortical dysplasia

and it prevents the assembly of the C3 and C5 convertase enzymes

This gene encodes a ribosomal protein that is a component of the 60S subunit

factor XIIa

The encoded protein plays a role in RNA metabolism by catalyzing the ATP-dependent conversion of the 3'-phosphate of RNA substrates to a 2'

KIRR1 Polyclonal Antibody, 20ul Antibody Development Mutations in this gene causeNEPH1 is a member of the nephrin like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size and charge selective ultrafiltration (Sellin et al., 2003