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Rare genetic disorder
KDM5C-related neurodevelopmental disorder (also known as Claes-Jensen syndrome) is a rare genetic condition caused by variants in the KDM5C gene, located
KDM5C-related neurodevelopmental disorder
KDM5C-related_neurodevelopmental_disorder
Protein-coding gene in the species Homo sapiens
Lysine-specific demethylase 5C is an enzyme that in humans is encoded by the KDM5C gene. KDM5C belongs to the alpha-ketoglutarate-dependent hydroxylase superfamily
KDM5C
Genetic disorder
attributed to changes in the copy number of several genes including HUWE1, KDM5C, IQSEC2, TSPYL2, SHROOM4, PHF8 and FAM120C. The HECT, UBA and WWE domain-containing
Xp11.2_duplication
Type of kidney cancer
frequently mutated genes were discovered in CCRCC: VHL, KDM6A/UTX, SETD2, KDM5C/JARID1C and MLL2. PBRM1 is also commonly mutated in CCRCC.[citation needed]
Clear cell renal cell carcinoma
Clear_cell_renal_cell_carcinoma
Sex chromosome in the XY sex-determination system
RPS4Y2 RPS4X Another copy of ribosomal protein S4. EIF1AY EIF4AX KDM5D KDM5C XKRY XK (protein) Found in the "yellow" amplicon. HSFY1, HSFY2 HSFX1, HSFX2
Y_chromosome
Laboratory process
analysis. Another option is the Kdm5c/Kdm5d assay, which targets X- and Y-linked versions of the Kdm5 gene. The Kdm5c gene product is 331 base pairs,
Genotyping
Protein family
other PHD fingers have tested negative in such assays. A protein called KDM5C has a PHD finger, which has been reported to bind histone H3 tri-methylated
PHD_finger
Form of kidney cancer
new frequently mutated genes were discovered in CCRCC; KDM6A/UTX, SETD2, KDM5C/JARID1C, and MLL2 CCRCC is derived from the proximal convoluted tubule Most
Renal_cell_carcinoma
Medical condition
intellectual disability and epilepsy. KDM5C: Lysine-specific demethylase 5C is an enzyme that in humans is encoded by the KDM5C gene a member of the SMCY homolog
X-linked intellectual disability
X-linked_intellectual_disability
Enzymes that remove methyl (CH3-) groups from nucleic acids
prostate cancer. KDM5 The KDM5 homologs includes KDM5A, KDM5B, KDM5C and KDM5D. KDM5A, KDM5B, KDM5C and KDM5D demethylate H3K4me2/3. The KDM5 family appears
Demethylase
A0A1W2PPD8 8101 KDM5A HGNC:9886; P29375 8102 KDM5B HGNC:18039; Q9UGL1 8103 KDM5C HGNC:11114; P41229 8104 KDM5D HGNC:11115; Q9BY66 8105 KDM6A HGNC:12637;
List of human protein-coding genes 4
List_of_human_protein-coding_genes_4
Observation of the diversity of tumour cells
mutations affecting H3K36 methyltransferase SETD2 and histone H3K4 demethylase KDM5C arose in spatially separated tumour sections. Similarly, MTOR, a gene encoding
Tumour_heterogeneity
Human protein
MED14, USP9X, and DDX3X. CXorf38 is also 1 of 5 genes (XIST, KDM6A, DDX3X, KDM5C, CXorf38) that are experimentally determined to both escape XCI and have
CXorf38_Isoform_1
UPF3B Mental retardation, X-linked, syndromic, JARID1C-related; 300534; KDM5C Mental retardation, X-linked, with cerebellar hypoplasia and distinctive
List_of_OMIM_disorder_codes
KDM5C
KDM5C
KDM5C
KDM5C
KDM5C
KDM5C
KDM5C
KDM5C
KDM5C