BOD1L1

Chr 4

biorientation of chromosomes in cell division 1 like 1

Also known as: BOD1L, FAM44A

NCBI Gene: 259282 ENSG00000038219 UniProt: Q8NFC6 OMIM: 616746

BOD1L1 encodes a component of the fork protection machinery that stabilizes RAD51 at stalled replication forks and protects against uncontrolled DNA resection during replication stress. Mutations cause autosomal dominant intellectual disability with microcephaly and seizures, typically presenting in early childhood. This gene is highly constrained against loss-of-function variation, indicating that BOD1L1 haploinsufficiency is likely not tolerated in the general population.

OMIM ResearchSummary from RefSeq, UniProt

Involved in DNA damage response and replication fork processing. Predicted to be located in nucleoplasm. Predicted to be part of Set1C/COMPASS complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIM 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

0.25

LOEUF· LoF intol.

LOF

Mechanism· predicted