RAD54B Chromosome 8
RAD54 homolog B
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What This Gene Does
The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
SNF2 related family
Locus Type
gene with protein product
Location
8q22.1
Ensembl
ENSG00000197275
Associated Conditions (1)
Carcinoma of colon
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1811079863 | Health Risk | Likely pathogenic | — |
| RS119490107 | Health Risk | Pathogenic | Carcinoma of colon, Carcinoma of colon |