WebList of clinical and research, molecular, cytogenetic, biochemical and serology tests for human health and Mendelian disorders, pharmacogenetic drug responses, somatic phenotypes, complex conditions and infectious diseases. WebHypomyelination and congenital cataract is caused by a change (genetic change ) in the FAM126A gene and is inherited in an autosomal recessive manner. Diagnosis of Hypomyelination and congenital cataract is based on clinical findings of muscle weakness and cataracts, and a brain MRI that indicates a loss of the myelin surrounding …

HYCC1 hyccin PI4KA lipid kinase complex subunit 1

WebTranslations in context of "Вирусы вызывают ряд заболеваний" in Russian-English from Reverso Context: Вирусы вызывают ряд заболеваний в организмах, которые они заражают. WebHCC is an autosomal recessive disorder caused by deficiency of the membrane protein Hyccin, which is encoded by the HYCC1/FAM126A (previously known as DRCTNNB1A) gene located on chromosome 7p21.3-p15.3 (Kawasoe et al. 2000). Mouse mutant studies indicated that hyccin is predominantly expressed in the neurons of the central nervous … factors and multiples grade 4 free worksheets

Expression of FAM126A in cancer - Summary - Protein Atlas

WebOct 31, 2012 · Kawasoe et al. (2000) identified FAM126A, which they called DRCTNNB1A, as a 521-amino acid protein whose expression was downregulated by beta-catenin (116806). Zara et al. (2006), who referred to the protein as hyccin, noted the presence of putative orthologs in different species. WebFeb 17, 2016 · Drctnnb1a, Fam126a. Organism names. Organism. Mus musculus (Mouse) Taxonomic identifier. 10090 NCBI. ... Gene expression databases. Bgee. ENSMUSG00000028995 Expressed in fetal liver hematopoietic progenitor cell and 247 other tissues; ExpressionAtlas. Q6P9N1 baseline and differential; Interaction. WebAbx , Every proteiIdentifier , Protein names , Gene names , Cross reference refseq , Length factors and multiples grade 5 worksheet