Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The MYO1E gene encodes a non-muscular myosin associated with cell membranes. Mutations are responsible for autosomal recessive FSGS type 6.
| 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 |
| 1. |
Krendel M et al. (2009) Disruption of Myosin 1e promotes podocyte injury. 
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| 2. |
Mele C et al. (2011) MYO1E mutations and childhood familial focal segmental glomerulosclerosis.
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| 3. |
Bement WM et al. (1994) Cloning and mRNA expression of human unconventional myosin-IC. A homologue of amoeboid myosins-I with a single IQ motif and an SH3 domain.
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| 4. |
Hasson T et al. (1996) Mapping of unconventional myosins in mouse and human.
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| 5. |
NCBI article NCBI 4643
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| 6. |
OMIM.ORG article Omim 601479
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| 7. |
Orphanet article Orphanet ID 270032
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| 8. |
Wikipedia article Wikipedia EN (MYO1E)
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