Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Protein RFT1

The RFT1 gene encodes an enzyme involved in glycosylation. Mutations cause autosomal recessive glycosylation disorder type 1N.

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:

Congenital disorder of glycosylation 1N
RFT1

References:

1.

Haeuptle MA et al. (2008) Human RFT1 deficiency leads to a disorder of N-linked glycosylation.

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2.

Vleugels W et al. (2009) RFT1 deficiency in three novel CDG patients.

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3.

Jaeken J et al. (2009) RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.

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4.

Ondruskova N et al. (2012) RFT1-CDG in adult siblings with novel mutations.

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5.

Helenius J et al. (2002) Translocation of lipid-linked oligosaccharides across the ER membrane requires Rft1 protein.

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6.

NCBI article

NCBI 91869 external link
7.

OMIM.ORG article

Omim 611908 external link
Update: Aug. 14, 2020
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