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

SKU: 41852512583

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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

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Description

Mutations in this gene cause cortical dysplasia

A4GNT(alpha-1

a critical initiating event in hemostasis

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

Catalytic activity:A phosphatidylcholine + H(2)O = choline + a phosphatidate

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

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