Preferred Label : NHERF1 wt Allele;
NCIt synonyms : ERM-Binding Phosphoprotein, 50-kD Gene; Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton Antiporter 3), Member 3
Regulator 1 Gene; EBP50; SLC9A3R1; Na /H Exchange Regulatory Co-Factor Gene; Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulator 1 Gene; NHE-RF; NHERF; Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulatory Factor 1
Gene; NHERF-1; Solute Carrier Family 9, Member 3, Regulator 1 Gene; Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 3 Regulator 1 Gene; NPHLOP2; SLC9A3 Regulator 1 Gene; Na( )/H( ) Exchange Regulatory Cofactor 1 Gene; NHERF Family PDZ Scaffold Protein 1 wt Allele;
NCIt 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.;
NCI Metathesaurus CUI : CL1773844;
GenBank Accession Number : AF015926;
Origin ID : C185690;
UMLS CUI : C5575301;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
