background:
The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. At least three alternatively spliced transcript variants encoding distinct isoforms have been observed. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Jul 2011]
Function:
Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. May promote the assembly of presynaptic RAD51 nucleoprotein filaments. The RAD51B-RAD51C dimer exhibits single-stranded DNA-dependent ATPase activity. The BCDX2 complex binds single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA.
Subcellular Location:
Nucleus.
Tissue Specificity:
Expressed in a wide range of tissues.
DISEASE:
Note=A chromosomal aberration involving RAD51L1 is found in pulmonary chondroid hamartoma. Translocation t(6;14)(p21;q23-24) with HMGA1.
Note=A chromosomal aberration involving RAD51L1 is found in uterine leiomyoma. Translocation t(12;14)(q15;q23-24) with HMGA2.
Similarity:
Belongs to the RecA family. RAD51 subfamily.
Database links:
Entrez Gene: 5890 Human
Entrez Gene: 467487 Chimpanzee
Entrez Gene: 617007 Cow
Entrez Gene: 100053023 Horse
Entrez Gene: 19363 Mouse
Entrez Gene: 100519785 Pig
Omim: 602948 Human
SwissProt: O15315 Human
SwissProt: O35719 Mouse
Unigene: 172587 Human
Unigene: 341756 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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