FILIP1 Chromosome 6
Filamin A interacting protein 1
Upload your DNA to see your personal genotypes for variants in FILIP1.
What This Gene Does
This gene encodes a filamin A binding protein. The encoded protein promotes the degradation of filamin A and may regulate cortical neuron migration and dendritic spine morphology. Mice lacking a functional copy of this gene exhibit reduced dendritic spine length and altered excitatory signaling. [provided by RefSeq, Oct 2016]
Associated Conditions (3)
Neuromuscular disorder
congenital
with dysmorphic facies
Key Variants
RS2534042345
Pathogenic
Neuromuscular disorder, congenital, with dysmorphic facies
Health Risk
RS763126633
Pathogenic
Neuromuscular disorder, congenital, with dysmorphic facies
Health Risk
RS775141616
Pathogenic
Neuromuscular disorder, congenital, with dysmorphic facies
Health Risk
RS779350691
Pathogenic
Neuromuscular disorder, congenital, with dysmorphic facies
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2534042345 | Health Risk | Pathogenic | Neuromuscular disorder, congenital, with dysmorphic facies |
| RS763126633 | Health Risk | Pathogenic | Neuromuscular disorder, congenital, with dysmorphic facies |
| RS775141616 | Health Risk | Pathogenic | Neuromuscular disorder, congenital, with dysmorphic facies |
| RS779350691 | Health Risk | Pathogenic | Neuromuscular disorder, congenital, with dysmorphic facies |