Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Protein sel-1 Homolog 1

Das SEL1L-Gen kodiert ein Protein, welches für die Beseitigung von fehlgefalteten Proteinen im Zytoplasma verantwortlich ist. Es finden sich Hinweise, dass dieses Gen eine Bedeutung für die Entwicklung entzündlicher Darmerkrankungen besitzen könnte.

Diagnostik:

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

Krankheiten:

Veranlagung für entzündliche Darmerkrankungen
SEL1L
Veranlagung für entzündliche Darmerkrankungen 13
ABCB1

Referenzen:

1.

Grant B et. al. (1996) The Caenorhabditis elegans sel-1 gene, a negative regulator of lin-12 and glp-1, encodes a predicted extracellular protein.

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2.

Grant B et. al. (1997) Structure, function, and expression of SEL-1, a negative regulator of LIN-12 and GLP-1 in C. elegans.

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3.

Biunno I et. al. (1997) Isolation of a pancreas-specific gene located on human chromosome 14q31: expression analysis in human pancreatic ductal carcinomas.

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4.

Donoviel DB et. al. (1999) SEL-1L maps to human chromosome 14, near the insulin-dependent diabetes mellitus locus 11.

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5.

Harada Y et. al. (1999) Complete cDNA sequence and genomic organization of a human pancreas-specific gene homologous to Caenorhabditis elegans sel-1.

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6.

Cattaneo M et. al. (2004) Identification of a region within SEL1L protein required for tumour growth inhibition.

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7.

Odom DT et. al. (2007) Tissue-specific transcriptional regulation has diverged significantly between human and mouse.

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8.

Kaneko M et. al. (2007) A different pathway in the endoplasmic reticulum stress-induced expression of human HRD1 and SEL1 genes.

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9.

Mueller B et. al. (2008) SEL1L nucleates a protein complex required for dislocation of misfolded glycoproteins.

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10.

Francisco AB et. al. (2011) Haploid insufficiency of suppressor enhancer Lin12 1-like (SEL1L) protein predisposes mice to high fat diet-induced hyperglycemia.

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11.

Hosokawa N et. al. (2016) Association of the SEL1L protein transmembrane domain with HRD1 ubiquitin ligase regulates ERAD-L.

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12.

Sun S et. al. (2016) Epithelial Sel1L is required for the maintenance of intestinal homeostasis.

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