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

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

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3.

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

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4.

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

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5.

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

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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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7.

NCBI article

NCBI 11231 [^]
8.

OMIM.ORG article

Omim 608648 [^]
9.

Orphanet article

Orphanet ID 118567 [^]
10.

Wikipedia article

Wikipedia EN (SEC63) [^]
Update: April 29, 2019