【佳學基因檢測】盤古大模型CDH16分子診斷的信息標簽

基因檢測的序列名稱：

CDH16

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

1014

人體基因序列數(shù)據(jù)庫中國際交流名稱全稱

cadherin 16

中國數(shù)據(jù)庫中基因全稱：

鈣粘蛋白16

基因檢測報告英文版基因簡介

This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. Mapped to a previously identified cluster of cadherin genes on chromosome 16q22.1, the gene localizes with superfamily members CDH1, CDH3, CDH5, CDH8 and CDH11. The protein consists of an extracellular domain containing 6 cadherin domains, a transmembrane region and a truncated cytoplasmic domain but lacks the prosequence and tripeptide HAV adhesion recognition sequence typical of most classical cadherins. Expression is exclusively in kidney, where the protein functions as the principal mediator of homotypic cellular recognition, playing a role in the morphogenic direction of tissue development. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]

基因突變所影響的基因信息

該基因是鈣粘蛋白超家族的成員，該家族編碼鈣依賴性，膜相關糖蛋白。映射到染色體16q22.1上先前鑒定的鈣粘蛋白基因簇，該基因定位于超家族成員CDH1，CDH3，CDH5，CDH8和CDH11。該蛋白由含有6個鈣粘蛋白結構域的細胞外結構域，跨膜區(qū)和截短的胞質(zhì)結構域組成，但缺少大多數(shù)經(jīng)典鈣粘蛋白的典型序列和三肽HAV粘附識別序列。表達僅在腎臟中進行，其中蛋白質(zhì)充當同型細胞識別的主要介體，在組織發(fā)育的形態(tài)發(fā)生方向中發(fā)揮作用。已經(jīng)鑒定出編碼不同同工型的選擇性剪接的轉(zhuǎn)錄變體。[由RefSeq提供，2011年3月]