NPHS1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human NPHS1 wild-type allele is located in the vicinity of 19q13.12 and is approximately 44 kb in length. This allele, which encodes nephrin protein, is involved in the maintenance of the slit diaphragm in the glomerulus and in smooth muscle cell development. Mutation of the gene is associated with nephrotic syndrome 1 (Finnish-type congenital nephrosis 1).

**Synonyms:** - CNF - NPHN - NPHS1 Adhesion Molecule, Nephrin wt Allele - NPHS1, Nephrin Gene - Nephrin Gene - Nephrosis 1, Congenital, Finnish Type (Nephrin) Gene