Sodium/hydrogen exchanger regulatory factor NHERF1
This gene encodes a sodium/hydrogen exchanger regulatory cofactor. Mutations cause autosomal dominant hypophosphatemic nephrolithiasis/osteoporosis 2.
Genetests:
Related Diseases:
References:
1. |
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.
|
2. |
Karim Z et al. (2008) NHERF1 mutations and responsiveness of renal parathyroid hormone.
|
3. |
Bonilha VL et al. (2001) Polarity and developmental regulation of two PDZ proteins in the retinal pigment epithelium.
|
4. |
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.
|
5. |
Weinman EJ et al. (2003) NHERF-1 uniquely transduces the cAMP signals that inhibit sodium-hydrogen exchange in mouse renal apical membranes.
|
6. |
Helms C et. al. (2003) A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis.
|
7. |
Takahashi Y et al. (2006) PTEN tumor suppressor associates with NHERF proteins to attenuate PDGF receptor signaling.
|
8. |
Cardone RA et al. (2007) The NHERF1 PDZ2 domain regulates PKA-RhoA-p38-mediated NHE1 activation and invasion in breast tumor cells.
|
9. |
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.
|
10. |
Orchard RC et al. (2012) Identification of F-actin as the dynamic hub in a microbial-induced GTPase polarity circuit.
|
11. |
Reczek D et al. (1997) Identification of EBP50: A PDZ-containing phosphoprotein that associates with members of the ezrin-radixin-moesin family.
|
12. |
Murthy A et al. (1998) NHE-RF, a regulatory cofactor for Na(+)-H+ exchange, is a common interactor for merlin and ERM (MERM) proteins.
|
13. |
Orphanet article
Orphanet ID 244322
|
14. |
NCBI article
NCBI 9368
|
15. |
OMIM.ORG article
Omim 604990
|
16. |
Wikipedia article
Wikipedia EN (Sodium-hydrogen_antiporter_3_regulator_1)
|
Update: Aug. 14, 2020