Glucosidase 2 beta-Untereinheit
Das PRKCSH-Gen codiert eine Glucosidase die für die Produktion von Glykanen mitverantwortlich ist. Mutationen sind für die autosomal dominante polyzystische Lebererkrankung Typ 1 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Trombetta ES et al. (1996) Endoplasmic reticulum glucosidase II is composed of a catalytic subunit, conserved from yeast to mammals, and a tightly bound noncatalytic HDEL-containing subunit.
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2. |
Reynolds DM et al. (2000) Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1.
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3. |
Li A et al. (2003) Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.
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4. |
Drenth JP et al. (2003) Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease.
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5. |
Sakai K et al. (1989) Isolation of cDNAs encoding a substrate for protein kinase C: nucleotide sequence and chromosomal mapping of the gene for a human 80K protein.
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6. |
Gao H et al. (2010) PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation.
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7. |
Fedeles SV et al. (2011) A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation.
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8. |
NCBI article
NCBI 5589
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9. |
OMIM.ORG article
Omim 177060
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10. |
Orphanet article
Orphanet ID 118020
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Update: 14. August 2020