FLII Chromosome 17
FLII actin remodeling protein
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What This Gene Does
This gene encodes a protein with a gelsolin-like actin binding domain and an N-terminal leucine-rich repeat-protein protein interaction domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the structural organization of indirect flight muscle. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Gelsolin/villins
Locus Type
gene with protein product
Location
17p11.2
Ensembl
ENSG00000177731
Associated Conditions (4)
Primary dilated cardiomyopathy
Cardiomyopathy
dilated
2j
Key Variants
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200455487 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS563225941 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Cardiomyopathy, dilated |
| RS2048273930 | Health Risk | Pathogenic | Cardiomyopathy, dilated, 2j |
| RS377064036 | Health Risk | Pathogenic | Cardiomyopathy, dilated, 2j |