Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Natrium-Wasserstoff-Austausch Regulationsfaktor NHERF1

Das SLC9A3R1-Gen kodiert ein Regulationsprotein des Membrantransportes. Mutationen führen zur autosomal dominanten Erkrankung die hypophosphatämische Nephrolithiasis und Osteoporose 2.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Hypophosphatämie mit Nephrolithiasis und Osteoporose Typ 2
SLC9A3R1

Referenzen:

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
Update: 14. August 2020
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