KDM5C
Template:Cs1 config Template:Short description Template:Infobox gene Lysine-specific demethylase 5C is an enzyme that in humans is encoded by the KDM5C gene.[1][2][3] KDM5C belongs to the alpha-ketoglutarate-dependent hydroxylase superfamily.
Function
This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motif suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked intellectual disability. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined.[3]
See also
- Xp11.2 duplication, section KDM5C
References
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Further reading
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External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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