Gene Symbol | KDM5C |
Entrez Gene ID | 8242 |
Full Name | lysine demethylase 5C |
Synonyms | DXS1272E,JARID1C,MRX13,MRXJ,MRXSCJ,MRXSJ,SMCX,XE169 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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 motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3) |