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.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
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. |
Sun S et al. (2016) Epithelial Sel1L is required for the maintenance of intestinal homeostasis.
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12. |
Hosokawa N et al. (2016) Association of the SEL1L protein transmembrane domain with HRD1 ubiquitin ligase regulates ERAD-L.
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13. |
NCBI article
NCBI 6400
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14. |
OMIM.ORG article
Omim 602329
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Update: 14. August 2020