Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The gene encodes a functional protein of glomerular podocytes. If mutated familial glomerulosclerosis 1 occurs.
The gene ACTN4 that is located on chomosom 19 (19q13) spans about 84.8kb. The 21 exons are all coding.
| 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 | 30 days | |
| Specimen type | genomic DNA |
| 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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| 4. |
Orphanet article Orphanet ID 117757
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| 5. |
NCBI article NCBI 81
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| 6. |
OMIM.ORG article Omim 604638
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| 7. |
Wikipedia article Wikipedia EN (Actinin_alpha_4)
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