Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Actinin alpha-4

The gene encodes a functional protein of glomerular podocytes. If mutated familial glomerulosclerosis 1 occurs.

Gene Structure

The gene ACTN4 that is located on chomosom 19 (19q13) spans about 84.8kb. The 21 exons are all coding.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 30 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hereditary FSGS type 1
ACTN4

References:

1.

Kaplan JM et al. (2000) Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.

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2.

Patrie KM et al. (2002) Interaction of two actin-binding proteins, synaptopodin and alpha-actinin-4, with the tight junction protein MAGI-1.

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3.

Kos CH et al. (2003) Mice deficient in alpha-actinin-4 have severe glomerular disease.

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Update: Sept. 26, 2018