KDM5C wt Allele

Preferred Label : KDM5C wt Allele;

NCIt synonyms : Smcy Homolog, X-Linked (Mouse) Gene; SMCX; Jumonji, AT Rich Interactive Domain 1C (RBP2-Like) Gene; RP11-258C19.2; XE169; DXS1272E; JARID1C; MRXSJ; Lysine (K)-Specific Demethylase 5C wt Allele; Jumonji, AT Rich Interactive Domain 1C Gene; MRXJ; MRXSCJ; Selected cDNA On X, Mouse, Homolog of Gene; MRX13;

NCIt definition : Human KDM5C wild-type allele is located within Xp11.22-p11.21 and is approximately 34 kb in length. This allele, which encodes lysine-specific demethylase 5C protein, plays a role in both histone modification and transcriptional regulation. Mutation of the gene is associated with JARID1C-related syndromic X-linked mental retardation and may be associated with clear cell renal carcinoma.;

NCIt note : The KDM5C gene escapes X-inactivation.;

GenBank Accession Number : Z29650;

Details

Origin ID

C97599;

UMLS CUI

C3273513;

Automatic exact mappings (from CISMeF team)
- Intellectual developmental disorder, X-linked, syndromic, claes-jensen type [OMIM Phenotype]
- Lysine demethylase 5c [OMIM gene]
- lysine demethylase 5C [ORDO Gene]
- syndromic X-linked intellectual disability Claes-Jensen type [DO Concept]
OMIM relation
- Lysine demethylase 5c [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xp11.22-p11.21 [NCIt concept]
gene_plays_role_in_process
- Chromatin Remodeling [NCIt concept]
- Histone Demethylation [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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