SMC1B

Chr 22

structural maintenance of chromosomes 1B

Also known as: SMC1BETA, SMC1L2

NCBI Gene: 27127 ENSG00000077935 UniProt: Q8NDV3

SMC1B encodes a meiosis-specific component of the cohesin complex that maintains sister chromatid cohesion during meiosis and contributes to chromosome synapsis and recombination. Mutations cause male infertility due to meiotic arrest and azoospermia, following an X-linked recessive inheritance pattern. The gene shows significant constraint against loss-of-function variants (LOEUF 0.36), reflecting its essential role in male reproductive development.

ResearchSummary from RefSeq, UniProt

SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.36

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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