Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13

The ALG13 gene has been observed to be associated with FSGS, but this result is not yet independently confirmed.

Genetests:

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

Related Diseases:

Focal, segmental glomerulosclerosis (FSGS)
ALG13
ARHGAP24
CLU
Hereditary FSGS type 1
ACTN4
Hereditary FSGS type 2
TRPC6
Hereditary FSGS type 3
CD2AP
Hereditary FSGS type 4
APOL1
Hereditary FSGS type 5
INF2
Hereditary FSGS type 6
MYO1E
Hereditary FSGS type 7
PAX2
ITGA9
LAMA5
NXF5

References:

1.

de Ligt J et. al. (2012) Diagnostic exome sequencing in persons with severe intellectual disability.

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2.

Esposito T et. al. (2013) Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.

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3.

Gao XD et. al. (2005) Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation.

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4.

Averbeck N et. al. (2007) Membrane topology of the Alg14 endoplasmic reticulum UDP-GlcNAc transferase subunit.

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5.

Timal S et. al. (2012) Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

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6.

et. al. (2013) De novo mutations in epileptic encephalopathies.

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7.

Michaud JL et. al. (2014) The genetic landscape of infantile spasms.

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8.

Dimassi S et. al. (2016) Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

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Update: Sept. 26, 2018