CAS1 Domain Containing Protein 1 (CASD1)

By database searching for sequences similar to that of the Cryptococcus neoformans Cas1 gene, followed by PCR of a human placenta cDNA library, Janbon et al. (2001) cloned CASD1. The deduced 797-amino acid protein contains 15 putative transmembrane domains and shares significant similarity with glycosyltransferases. C. neoformans is an opportunistic yeast-like fungal pathogen that infects mainly immunocompromized patients. These cells have a thick extracellular polysaccharide capsule which is composed mostly of glucuronoxylomannan (GXM) residues. Zimprich et al. (2001) demonstrated that C. neoformans Cas1 is a membrane protein necessary for the synthesis of O-acetyl residues on the GXM structure.Zimprich et al. (2001) identified the C7ORF12 gene (CASD1) within a critical region on chromosome 7q21 linked to myoclonic dystonia.