Medical Knowledge Cockpit mental retardation, x-linked, syndromic

KDM5C

Somatic tumors

clear cell renal carcinoma

Tumor types germline

Cancer Syndrom

Translocation partner

Name

lysine (K)-specific demethylase 5C (JARID1C)

Chromosome banding

Xp11.22-p11.21

Cancer molecular gen.

Rec

Mutation type

N, F, S, Mis

Other syndrome disease

X-linked mental retardation syndromic Claes-Jensen-type.

• RNA transport
  Homo sapiens (human) one gene

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ATP6AP2

• Pivotal role of the renin/prorenin receptor in angiotensin II production and cellular responses to renin

HSD17B10

• An intracellular protein that binds amyloid-beta peptide and mediates neurotoxicity in Alzheimer's disease

FGD1

• Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome
• Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane

SLC9A6

• Enhanced recruitment of endosomal Na+/H+ exchanger NHE6 into Dendritic spines of hippocampal pyramidal neurons during NMDA receptor-dependent long-term potentiation

AP1S2

• Towards a proteome-scale map of the human protein-protein interaction network
• HIV-1 Nef stabilizes AP-1 on membranes without inducing ARF1-independent de novo attachment

MECP2

• Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation
• The odyssey of MeCP2 and parental imprinting
• The solution structure of the domain from MeCP2 that binds to methylated DNA

UBE2A

• Localization of two human homologs, HHR6A and HHR6B, of the yeast DNA repair gene RAD6 to chromosomes Xq24-q25 and 5q23-q31

ZDHHC9

• Identification of Novel Human Genes Evolutionarily Conserved in Caenorhabditis elegans by Comparative Proteomics

HUWE1

• Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro

UPF3B

• Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4)

CUL4B

• Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes
• PCNA is a cofactor for Cdt1 degradation by CUL4/DDB1-mediated N-terminal ubiquitination
• A general approach for investigating enzymatic pathways and substrates for ubiquitin-like modifiers
• Histone H3 and H4 ubiquitylation by the CUL4-DDB-ROC1 ubiquitin ligase facilitates cellular response to DNA damage
• cul-1 is required for cell cycle exit in C. elegans and identifies a novel gene family

CLIC2

• Genomic structure of a novel chloride channel gene, CLIC2, in Xq28

KDM5C

• Sex differences in structure and expression of the sex chromosome genes CHD1Z and CHD1W in zebra finches