Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Translocation protein SEC63 homolog

The SEC63 gene encodes a protein of the translocation complex of the endoplasmatic reticulum. Mutations cause autosomal dominant polycystic liver disease type 2.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Polycystic liver disease 2
SEC63

References:

1.

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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2.

Woollatt E et. al. (1999) Human Sec63 endoplasmic reticulum membrane protein, map position 6q21.

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3.

Skowronek MH et. al. (1999) Molecular characterization of a novel mammalian DnaJ-like Sec63p homolog.

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4.

Meyer HA et. al. (2000) Mammalian Sec61 is associated with Sec62 and Sec63.

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5.

Davila S et. al. (2004) Mutations in SEC63 cause autosomal dominant polycystic liver disease.

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6.

Müller L et. al. (2010) Evolutionary gain of function for the ER membrane protein Sec62 from yeast to humans.

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Update: Sept. 26, 2018