Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Ankyrin repeat and SOCS box protein 10

Mutations of the ASB10 gene cause autosomal dominant open angle glaucoma 1F.

Genetests:

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

Related Diseases:

Open angle glaucoma 1F
ASB10

References:

1.

Wirtz MK et al. (1999) GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36.

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2.

Pasutto F et al. (2012) Variants in ASB10 are associated with open-angle glaucoma.

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3.

Kile BT et al. (2001) Functional analysis of Asb-1 using genetic modification in mice.

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4.

Kile BT et al. (2002) The SOCS box: a tale of destruction and degradation.

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5.

NCBI article

NCBI 136371 [^]
6.

OMIM.ORG article

Omim 615054 [^]
Update: April 29, 2019