Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Sodium/hydrogen exchanger regulatory factor NHERF1

This gene encodes a sodium/hydrogen exchanger regulatory cofactor. Mutations cause autosomal dominant hypophosphatemic nephrolithiasis/osteoporosis 2.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Nephrolithiasis/osteoporosis, hypophosphatemic, 2



Wang B et al. (2008) Na/H exchange regulatory factor 1, a novel AKT-associating protein, regulates extracellular signal-regulated kinase signaling through a B-Raf-mediated pathway.

external link

Karim Z et al. (2008) NHERF1 mutations and responsiveness of renal parathyroid hormone.

external link

Bonilha VL et al. (2001) Polarity and developmental regulation of two PDZ proteins in the retinal pigment epithelium.

external link

Shenolikar S et al. (2002) Targeted disruption of the mouse NHERF-1 gene promotes internalization of proximal tubule sodium-phosphate cotransporter type IIa and renal phosphate wasting.

external link

Weinman EJ et al. (2003) NHERF-1 uniquely transduces the cAMP signals that inhibit sodium-hydrogen exchange in mouse renal apical membranes.

external link

Helms C et. al. (2003) A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis.

external link

Takahashi Y et al. (2006) PTEN tumor suppressor associates with NHERF proteins to attenuate PDGF receptor signaling.

external link

Cardone RA et al. (2007) The NHERF1 PDZ2 domain regulates PKA-RhoA-p38-mediated NHE1 activation and invasion in breast tumor cells.

external link

Murtazina R et al. (2007) Tissue-specific regulation of sodium/proton exchanger isoform 3 activity in Na(+)/H(+) exchanger regulatory factor 1 (NHERF1) null mice. cAMP inhibition is differentially dependent on NHERF1 and exchange protein directly activated by cAMP in ileum versus proximal tubule.

external link

Orchard RC et al. (2012) Identification of F-actin as the dynamic hub in a microbial-induced GTPase polarity circuit.

external link

Reczek D et al. (1997) Identification of EBP50: A PDZ-containing phosphoprotein that associates with members of the ezrin-radixin-moesin family.

external link

Murthy A et al. (1998) NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins.

external link

Orphanet article

Orphanet ID 244322 external link

NCBI article

NCBI 9368 external link

OMIM.ORG article

Omim 604990 external link

Wikipedia article

Wikipedia EN (Sodium-hydrogen_antiporter_3_regulator_1) external link
Update: Aug. 14, 2020
Copyright © 2005-2021 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits