In fact, this an indirect genetic association, where normal ITPase activity is associated with more severe hemolytic anemia, driving a reactive thrombocytosis that manifests as a relative amelioration of pegIFN-related thrombocytopenia. By analogy with the familial forms of CJD, which are caused by mutations in the PRNP gene, it was first assumed that PrPsc was simply a mutant derivative of PrPc. The protein is expressed in most tissues and is especially abundant in brain.
The PrP gene encodes a host glycoprotein of unknown function and is located on the short arm of chromosome 20, a region with few known genes or anonymous markers. M. Joe Ma, in Practical Surgical Neuropathology, 2010. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.. In mice and rabbits, the Asip gene has two different promoters, the proximal hair cycle-specific promoter and the distal ventral-specific promoter , and produces multiple forms of mRNAs by alternative promoter usage and alternative splicing. The cysteine residues 146 and 185 form a disulfide bridge that is essential for the correct folding and secretion of PLTP (Huuskonen et al., 1998, 1999; Qu et al., 1999). The chromosome 20 image. The XLαs, A/B και GNAS-AS1 promoters are methylated on the maternal allele and are exclusively paternally expressed. A generally clear genotype–phenotype correlation was observed among 19 Japanese patients. LA-PLTP is located between LDL and HDL on size-exclusion chromatography, having an apparent molecular mass of 520 kDa and a Stokes diameter of 12–17 nm (Oka et al., 2000a; Murdoch et al., 2002). Five mutated genes on chromosome 20 have a relation to disease: a mutation in the adenosine deaminase gene results in a deficiency of the enzyme and severe combined immune deficiency; mutations in the gene for the growth hormone releasing factor result in some forms of dwarfism; mutations in the closely linked genes for the hormones arginine vasopressin and oxytocin and their neurophysins are probably responsible for some diabetes insipidus; and mutations in the gene that regulates both alpha-neuraminidase and beta-galactosidase activities determine galactosialidosis. Only seven genes and one fragile site were confirmed assignments to chromosome 20 at the Ninth Human Gene Mapping Workshop in September 1987 (HGM9). The number of gene assignments to human chromosome 20 has increased slowly until recently. The p-value for association of a combined low-activity ITPA allele made up of either functional variant was p = 2.23 × 10−91.
Shaded boxes represent noncoding transcripts. Therefore, in patients with ITPase deficiency who are protected from RBV-hemolysis, more severe thrombocytopenia is observed.