Medical Knowledge Cockpit mental retardation, x-linked syndromic

 

• tumor suppressor arf inhibits ribosomal biogenesis
  species not specified one gene

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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

 

HSD17B10

This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductasesuperfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fattyacids, alcohols, and steroids. The protein has been implicated in the development of Alzheimer's disease, andmutations in the gene are the cause of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD). Severalalternatively spliced transcript variants have been identified, but the full-length nature of only two transcriptvariants has been determined. (provided by RefSeq, Jul 2008)

This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductasesuperfamily

The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fattyacids, alcohols, and steroids. The protein has been implicated in the development of Alzheimer's disease, andmutations in the gene are the cause of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD). Severalalternatively spliced transcript variants have been identified, but the full-length nature of only two transcriptvariants has been determined. (provided by RefSeq, Jul 2008)