RTF

(redirected from ATP6V0A2)
Also found in: Medical, Encyclopedia.

RTF

abbreviation for
(Computer Science) rich text format: a standard file format allowing file transfer between different applications and operating systems
Collins English Dictionary – Complete and Unabridged, 12th Edition 2014 © HarperCollins Publishers 1991, 1994, 1998, 2000, 2003, 2006, 2007, 2009, 2011, 2014
Translations

RTF

abbr of rich text format → RTF nt
Collins German Dictionary – Complete and Unabridged 7th Edition 2005. © William Collins Sons & Co. Ltd. 1980 © HarperCollins Publishers 1991, 1997, 1999, 2004, 2005, 2007
References in periodicals archive ?
We obtained samples from patients with known glycosylation defects associated with the proteins that are encoded by these genes: mannosyl ([alpha]-1,6-)-glycoprotein [beta]-1,2-N-acetylglucosaminyltransferase (MGAT2); [beta]-1,4-galactosyltransferase 1 (B4GALT1); solute carrier family 35 (CMP-sialic acid transporter), member A1 (SLC35A1; other designation: CMP-sialic acid transporter); solute carrier family 35, member C1 (SLC35C1; other designation: GDP-fucose transporter); component of oligomeric Golgi complex 7 (COG7); and ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2).
Known defects included deficiencies in glycosyltransferases (MGAT2 and B4GALT1), nucleotide sugar transporters (SLC35C1 and SLC35A1), and Golgi transport proteins (COG7 and ATP6V0A2), whereas secondary causes included severe liver pathology and the presence of plasma sialidase.
CL may be caused by mutations in the genes: ELN, ATP6V0A2, ATP7A, FBLN4,5 and FBLN5.2,6