Entrez Summary: This gene encodes a protein that is required for DNA double-strand break repair, chromosome synapsis, and meiotic recombination in spermatocytes. Male mice with a knockout of the orthologous gene are viable but sterile. Loss-of-function mutations in the orthologous mouse gene cause early meiotic arrest in spermatocytes, before the mid-pachytene stage. Naturally occurring mutations in this gene are associated with nonobstructive azoospermia. [provided by RefSeq, Apr 2017].
UniProt Summary: Required during spermatogenesis for normal chromosome synapsis and meiotic recombination in germ cells. Necessary for formation of DMC1 and RAD51 foci on meiotic chromosomes, suggesting a specific role in DNA double-stranded break repair. {ECO:0000250|UniProtKB:F8VPN2}.
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
synapsis
regulation of double-strand break repair via homologous recombination
male meiotic nuclear division
homologous chromosome segregation
chromosome organization involved in meiotic cell cycle
regulation of double-strand break repair
meiotic chromosome segregation
regulation of DNA recombination
meiosis I
meiosis I cell cycle process
regulation of DNA repair
meiotic nuclear division
meiotic cell cycle process
regulation of response to DNA damage stimulus
nuclear chromosome segregation
meiotic cell cycle
chromosome segregation
nuclear division
organelle fission
regulation of DNA metabolic process
cellular process involved in reproduction in multicellular organism
DNA repair
spermatogenesis
male gamete generation
gamete generation
regulation of cellular response to stress
DNA metabolic process
cellular response to DNA damage stimulus
multicellular organismal reproductive process
sexual reproduction
multicellular organism reproduction
multi-organism reproductive process
cell cycle process
chromosome organization
cell cycle
reproductive process
reproduction
regulation of response to stress
cellular response to stress
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)