Description
Product Characteristics:
Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Participates in transcriptional repression of neuronal genes by recruiting histone deacetylases and REST at neuron-restrictive silencer elements.Tissue specificity:br>Involvement in disease:Defects in KDM5C are the cause of mental retardation syndromic X-linked JARID1C-related (MRXSJ). MRXSJ is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXSJ patients manifest mental retardation associated with variable features such as slowly progressive spastic paraplegia, seizures, facial dysmorphism.
Synonyms: SmcX protein, Xe169 protein, DXS1272E, Histone demethylase JARID1C, JmjC domain containing protein SMCX, Jumonji AT rich interactive domain 1C, Jumonji/ARID domain-containing protein 1C, KDM5C, KDM5C_HUMAN, Lysine K specic demethylase 5C, Lysine-specic demethylase 5C, MRXJ, MRXSCJ, MRXSJ, Protein SmcX, Protein Xe169, rbp2 like protein, Selected cDNA on X, Smcx homolog X chromosome, SmcX protein, Smcy homolog X linked, XE169, Xe169 protein.
Target Information: 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 mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]