Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Myosin IE

The MYO1E gene encodes a non-muscular myosin associated with cell membranes. Mutations are responsible for autosomal recessive FSGS type 6.

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:

Hereditary FSGS type 6
MYO1E

References:

1.

Krendel M et al. (2009) Disruption of Myosin 1e promotes podocyte injury.

external link
2.

Mele C et al. (2011) MYO1E mutations and childhood familial focal segmental glomerulosclerosis.

external link
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.

external link
4.

Hasson T et al. (1996) Mapping of unconventional myosins in mouse and human.

external link
5.

NCBI article

NCBI 4643 external link
6.

OMIM.ORG article

Omim 601479 external link
7.

Orphanet article

Orphanet ID 270032 external link
8.

Wikipedia article

Wikipedia EN (MYO1E) external link
Update: Aug. 14, 2020
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