KDM1B

Chr 6

lysine demethylase 1B

Also known as: AOF1, C6orf193, LSD2

NCBI Gene: 221656 ENSG00000165097 UniProt: Q8NB78

The KDM1B protein is a histone demethylase that removes methyl groups from lysine-4 of histone H3, acting as a transcriptional corepressor and playing a critical role in DNA methylation of imprinted genes during oogenesis. Loss-of-function mutations in KDM1B cause autosomal recessive intellectual disability with microcephaly through disruption of epigenetic gene regulation. The low pLI score (0.001) and moderate LOEUF score (0.53) indicate this gene is relatively tolerant to heterozygous loss-of-function but pathogenic when both copies are affected.

ResearchSummary from RefSeq, UniProt

Flavin-dependent histone demethylases, such as KDM1B, regulate histone lysine methylation, an epigenetic mark that regulates gene expression and chromatin function (Karytinos et al., 2009 [PubMed 19407342]).[supplied by OMIM, Oct 2009]

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

0.53

LOEUF

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Mechanism

Some data sources returned errors (1)

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