Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin

The protein is a component of a mutiprotein complex associated with chromatin. Mutations cause autosomal recessive Schimke immunoosseous dysplasia.

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 20 days
Specimen type genomic DNA

Related Diseases:

Schimke Immunoosseous dysplasia
SMARCAL1

References:

1.

Boerkoel CF et al. (2002) Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

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2.

Taha D et al. (2004) Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia.

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3.

Clewing JM et al. (2007) Schimke immuno-osseous dysplasia: a clinicopathological correlation.

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4.

Clewing JM et al. (2007) Schimke immunoosseous dysplasia: suggestions of genetic diversity.

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5.

Spranger J et al. (1991) Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.

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6.

Schimke RN et al. (1971) Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome.

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7.

NCBI article

NCBI 50485 [^]
8.

OMIM.ORG article

Omim 606622 [^]
9.

Orphanet article

Orphanet ID 119731 [^]
10.

Wikipedia article

Wikipedia EN (SMARCAL1) [^]
Update: April 29, 2019