NHERF1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human NHERF1 wild-type allele is located in the vicinity of 17q25.1 and is approximately 21 kb in length. This allele, which encodes Na(+)/H(+) exchange regulatory cofactor NHE-RF1 protein, plays a role in the association of members of the ezrin/moesin/radixin family with actin and cytoskeletal effector proteins. Mutation of the gene is associated with hypophosphatemic nephrolithiasis/osteoporosis type 2, while loss of heterozygosity of this gene may be associated with breast cancer.

**Synonyms:** - EBP50 - ERM-Binding Phosphoprotein, 50-kD Gene - NHE-RF - NHERF - NHERF Family PDZ Scaffold Protein 1 wt Allele - NHERF-1 - NPHLOP2 - Na(+)/H(+) Exchange Regulatory Cofactor 1 Gene - Na+/H+ Exchange Regulatory Co-Factor Gene - SLC9A3 Regulator 1 Gene - SLC9A3R1 - Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulator 1 Gene - Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulatory Factor 1 Gene - Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 3 Regulator 1 Gene - Solute Carrier Family 9, Member 3, Regulator 1 Gene - Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton Antiporter 3), Member 3 Regulator 1 Gene