Overview:

KDM5C or lysine (K)-specific demethylase 5C is a member of the SMCY homolog family that encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. KDM5C is mainly expressed in brain and skeletal muscle. KDM5C is involved in the regulation of transcription and chromatin remodelling that cause X-linked mental retardation (1). KDM5C is also essential for spermatogenesis and expression of male-specific minor histocompatibility antigens (2).

Gene Aliases:

JARID1C; DXS1272E; MRXJ; MRXSJ; XE169

Genbank Number:

BC054499

References:

1. Jensen, L. R. et.al: Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am. J. Hum. Genet. 76: 227-236, 2005.

2. Agulnik, A. I. et.al: A mouse Y chromosome gene encoded by a region essential for spermatogenesis and expression of male-specific minor histocompatibility antigens. Hum. Molec. Genet. 3: 873-878, 1994.