Gene: ABRAXAS1

Alternate names for this Gene: ABRA1|CCDC98|FAM175A

Gene Summary: This gene encodes a protein that binds to the C-terminal repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resistance, DNA repair, and cell cycle checkpoint control. Pseudogenes of this gene are found on chromosomes 3 and 8. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 4

Location in Chromosome : 4q21.23

Description of this Gene: abraxas 1, BRCA1 A complex subunit

Type of Gene: protein-coding

rs1565909 in ABRAXAS1 gene and Age at menopause PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.