Gene: KDM5C

Alternate names for this Gene: DXS1272E|JARID1C|MRX13|MRXJ|MRXSCJ|MRXSJ|SMCX|XE169

Gene 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.

Gene is located in Chromosome: X

Location in Chromosome : Xp11.22

Description of this Gene: lysine demethylase 5C

Type of Gene: protein-coding

rs199422235 in KDM5C gene and Dysmorphic features PMID 26919706 2016 Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

PMID 23999528 2014 Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.

PMID 15586325 2005 Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.

PMID 17320160 2007 The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases.

PMID 18203167 2008 A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD).

PMID 19826449 2010 Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.

PMID 27421841 2016 Patient Mutations of the Intellectual Disability Gene KDM5C Downregulate Netrin G2 and Suppress Neurite Growth in Neuro2a Cells.

PMID 16541399 2006 Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.

PMID 25666439 2015 Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

PMID 17468742 2007 The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.

PMID 24583395 2014 KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.

PMID 18697827 2008 Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

rs1057518697 in KDM5C gene and MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE PMID 23356856 2013 Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.

rs1569285562 in KDM5C gene and Spastic Paraplegia PMID 25666439 2015 Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

PMID 22326837 2012 A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.