MYO1C Chromosome 17

Myosin IC
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. The mouse ortholog of this protein also functions in intracellular vesicle transport to the plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. The related gene myosin IE has been referred to as myosin IC in the literature, but it is a distinct locus on chromosome 19. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Myosin heavy chains, class I|B-WICH chromatin-remodelling complex subunits"
Locus Type
gene with protein product
Location
17p13.3
Ensembl
ENSG00000197879
Associated Conditions (1)
MYO1C-related disorder
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS143802377 Health Risk Conflicting classifications of pathogenicity MYO1C-related disorder, MYO1C-related disorder
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