{"id":12335,"date":"2022-02-03T14:46:07","date_gmt":"2022-02-03T13:46:07","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=12335"},"modified":"2022-02-03T14:46:07","modified_gmt":"2022-02-03T13:46:07","slug":"gene-of-the-month-january-trappc9","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-january-trappc9\/","title":{"rendered":"Gene of the Month &#8211; January: TRAPPC9"},"content":{"rendered":"<p>Autosomal recessive variants in TRAPPC9 have for the first time been linked to a congenital glycosylation defect. Researchers identified biallelic missense variants of <em>TRAPPC9<\/em> in three patients with a novel syndromic phenotype of intellectual disability, dysmorphic features and an N-glycosylation defect.<\/p>\n<p><em>TRAPPC9 <\/em>variants causing a deficiency in the encoded protein, trafficking protein particle complex subunit 9, have previously been described as underlying intellectual disability in isolated form or as part of an autosomal recessive syndrome characterized also by obesity, brain malformations, facial dysmorphism and other features. TRAPPC9, a subunit of the TRAPPII complex, is involved in important intracellular transport processes and also in the NF-kappaB signalling pathway, which is essential in neuronal development. The study&#8217;s findings from functional and biochemical cell model investigations involving patient fibroblasts suggest a previously unknown role of TRAPPC9 related to glycosylation. In this complex chain of biochemical reactions, sugar chains are formed that adhere to proteins. The resulting glycoproteins are needed for vital processes and functioning of all tissues and organs in the human body.<\/p>\n<p>The results of the study have been published in <em>Genetics in Medicine<\/em>.<\/p>\n[vc_column_text] Radenkovic S, Martinelli D, Zhang Y, \u2026 Morava E. TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability. <em>Genet Med.<\/em> 2022 Jan 15:S1098-3600(21)05471-X. doi: 10.1016\/j.gim.2021.12.012. [\/vc_column_text]\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/35042660&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Article in PubMed[\/mk_button][mk_padding_divider size=&#8221;30&#8243;]\n","protected":false},"excerpt":{"rendered":"<p>Autosomal recessive variants in TRAPPC9 have for the first time been linked to a congenital glycosylation defect. Researchers identified biallelic missense variants of TRAPPC9 in three patients with a novel syndromic phenotype of intellectual disability, dysmorphic features and an N-glycosylation defect. TRAPPC9 variants causing a deficiency in the encoded protein, trafficking protein particle complex subunit [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-12335","post","type-post","status-publish","format-standard","hentry","category-gene-of-the-month"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Gene of the Month - January: TRAPPC9 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"Autosomal recessive variants in TRAPPC9 have for the first time been linked to a congenital glycosylation defect.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-january-trappc9\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gene of the Month - January: TRAPPC9 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"Autosomal recessive variants in TRAPPC9 have for the first time been linked to a congenital glycosylation defect.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-january-trappc9\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2022-02-03T13:46:07+00:00\" \/>\n<meta name=\"author\" content=\"KB\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"KB\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-january-trappc9\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-january-trappc9\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"headline\":\"Gene of the Month &#8211; 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