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Sodium/hydrogen exchanger regulatory factor NHERF1

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

Genetests:

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
SLC9A3R1

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.

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2.

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

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3.

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

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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.

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5.

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

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6.

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

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7.

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

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8.

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

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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.

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10.

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

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11.

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

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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.

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13.

Orphanet article

Orphanet ID 244322 external link
14.

NCBI article

NCBI 9368 external link
15.

OMIM.ORG article

Omim 604990 external link
16.

Wikipedia article

Wikipedia EN (Sodium-hydrogen_antiporter_3_regulator_1) external link
Update: Aug. 14, 2020
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