LongevityMap Gene
Gene details
- HGNC symbol
- WDR72
- Aliases
- AI2A3
- Common name
- WD repeat domain 72
- Description
- This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
- Cytogenetic Location
- 15q21.3
- UCSC Genome Browser
- View 15q21.3 on the UCSC genome browser
- OMIM
- 613214
- Ensembl
- ENSG00000166415
- UniProt/Swiss-Prot
- A0A087WTC3_HUMAN
- Entrez Gene
- 256764
- UniGene
- 122125
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
Studies (1)
Significant/Non-significant: 1/0
- Longevity Association
- Significant
- Population
- American (Caucasian)
- Study Design
- Genome-wide association study in 801 centenarians and 914 healthy controls
- Conclusions
- 281 SNPs were found to discriminate between cases and controls
- Indentifier
- rs10518725
- Reference