Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Proteintransporter Sec61 Untereinheit alpha Isoform 1

Das SEC61A1-Gen kodiert ein Gen des endoplasmatischen Retikulums, welches für die Prozession sezernierter Proteine verantwortlich ist. Mutationen können eine autosomal dominante tubulointerstitielle Nierenerkrankung auslösen (ADTKD-SEC61A1). Neben der tubulointerstitiellen Nierenschädigung ist die Erkrankung durch eine kongenitale Anämie und entweder eine intrauterine Wachstumsverzögerung oder eine Neutropenie gekennzeichnet. In variablem Maße findet sich eine Kiefer-Gaumenspalte oder Uvula bifida.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Autosomal dominante tubulointerstitielle Nierenerkrankung (ADTKD)
HNF1B
MUC1
REN
SEC61A1
UMOD

Referenzen:

1.

Wiertz EJ et. al. (1996) Sec61-mediated transfer of a membrane protein from the endoplasmic reticulum to the proteasome for destruction.

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2.

Chen Y et. al. (1998) Calnexin and other factors that alter translocation affect the rapid binding of ubiquitin to apoB in the Sec61 complex.

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3.

Bebök Z et. al. (1998) The mechanism underlying cystic fibrosis transmembrane conductance regulator transport from the endoplasmic reticulum to the proteasome includes Sec61beta and a cytosolic, deglycosylated intermediary.

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4.

Greenfield JJ et. al. (1999) The Sec61 complex is located in both the ER and the ER-Golgi intermediate compartment.

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5.

Petaja-Repo UE et. al. (2001) Newly synthesized human delta opioid receptors retained in the endoplasmic reticulum are retrotranslocated to the cytosol, deglycosylated, ubiquitinated, and degraded by the proteasome.

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6.

Hessa T et. al. (2005) Recognition of transmembrane helices by the endoplasmic reticulum translocon.

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7.

Hessa T et. al. (2007) Molecular code for transmembrane-helix recognition by the Sec61 translocon.

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8.

Becker T et. al. (2009) Structure of monomeric yeast and mammalian Sec61 complexes interacting with the translating ribosome.

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9.

Gogala M et. al. (2014) Structures of the Sec61 complex engaged in nascent peptide translocation or membrane insertion.

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10.

Plumb R et. al. (2015) A functional link between the co-translational protein translocation pathway and the UPR.

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11.

Schorr S et. al. (2015) Co-chaperone Specificity in Gating of the Polypeptide Conducting Channel in the Membrane of the Human Endoplasmic Reticulum.

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12.

Bolar NA et. al. (2016) Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.

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13.

Pfeffer S et. al. (2016) Organization of the native ribosome-translocon complex at the mammalian endoplasmic reticulum membrane.

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14.

Haßdenteufel S et. al. (2014) Protein transport into the human ER and related diseases, Sec61-channelopathies.

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15.

Ruiz-Saenz A et. al. (2015) Targeting HER3 by interfering with its Sec61-mediated cotranslational insertion into the endoplasmic reticulum.

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16.

Lloyd DJ et. al. (2010) A point mutation in Sec61alpha1 leads to diabetes and hepatosteatosis in mice.

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