FRMD4A Chromosome 10
FERM domain containing 4A
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What This Gene Does
This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
FERM domain containing
Locus Type
gene with protein product
Location
10p13
Ensembl
ENSG00000151474
Associated Conditions (1)
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Key Variants
RS2491122657
Likely pathogenic
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Health Risk
RS2542166691
Likely pathogenic
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Health Risk
RS869025338
Pathogenic
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2491122657 | Health Risk | Likely pathogenic | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome |
| RS2542166691 | Health Risk | Likely pathogenic | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome |
| RS869025338 | Health Risk | Pathogenic | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome |