KDM4C

Chr 9

lysine demethylase 4C

Also known as: GASC1, JHDM3C, JMJD2C, TDRD14C

NCBI Gene: 23081 ENSG00000107077 UniProt: Q9H3R0

The KDM4C protein is a histone demethylase that specifically removes trimethyl groups from lysine-9 and lysine-36 residues of histone H3, playing a central role in gene expression regulation through chromatin modification. Mutations in this gene cause intellectual disability with dysmorphic features, which follows an autosomal dominant inheritance pattern. The condition typically involves developmental delays and distinctive facial features, representing a relatively recently described neurodevelopmental disorder.

ResearchSummary from RefSeq, UniProt

This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation. Chromosomal aberrations and changes in expression of this gene may be found in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.54

LOEUF

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Mechanism

Some data sources returned errors (1)