LongevityMap Gene
Gene details
- HGNC symbol
- FRMD4A
- Aliases
- FRMD4; CCAFCA; bA295P9.4
- Common name
- FERM domain containing 4A
- Description
- 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]
- Cytogenetic Location
- 10p13
- UCSC Genome Browser
- View 10p13 on the UCSC genome browser
- OMIM
- 616305
- Ensembl
- ENSG00000151474
- UniProt/Swiss-Prot
- FRM4A_HUMAN
- Entrez Gene
- 55691
- UniGene
- 330463
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- American, English, Irish
- Study Design
- 10 late-onset Alzheimer's disease genes were tested for association with human aging in the dataset (1385 samples with documented age at death, age range: 58–108 years; mean age at death: 80.2 years) using the most significant SNPs found in the previous studies. A set of 41 tentative SNPs span the genome were identified in this study.
- Conclusions
- Some signals were at best tentative but may merit study in larger sample sets
- Indentifier
- rs12257410
- Reference