KDM5C
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Lysine-specific demethylase 5C is an enzyme that in humans is encoded by the KDM5C gene.[5][6][7] 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—See KDM5C-related neurodevelopmental disorder. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined.[7]
