Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic 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:

Polyzystische Lebererkrankung 1
PRKCSH

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.

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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3.

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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4.

Li A et. al. (2003) Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.

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5.

Drenth JP et. al. (2003) Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease.

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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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