缺陷的GALNT12导致CRCS1
中文名称
通路描述
缺陷的GALNT12导致CRCS1。UDP GalNAc：多肽N乙酰半乳糖胺转移酶（GalNAc转移酶，GALNTs）家族通过在蛋白质上的丝氨酸、苏氨酸或可能酪氨酸残基上添加N乙酰半乳糖胺发挥作用，并与黏蛋白最常见相关（Wandall等人，1997）。该反应发生在高尔基体（Rottger等人，1998）。GALNT家族已知有20个成员，其中15个已表征，另外5个候选成员基于序列相似性被认为属于该家族（Bennett等人，2012）。GALNT家族属于CAZy家族GT27。GALNT家族中一个成员GALNT12（Guo等人，2002）（MIM:610290）的缺陷可导致黏蛋白糖基化降低，主要表达于消化器官如胃、小肠和结肠，并可能在结直肠癌中发挥作用（CRCS1；MIM:608812）。CRCS1是一种复杂疾病，特征是结肠和直肠内壁恶性病变（Guda等人，2009；Clarke等人，2012）。
英文描述
Defective GALNT12 causes CRCS1 The family of UDP GalNAc:polypeptide N acetylgalactosaminyltransferases (GalNAc transferases, GALNTs) carry out the addition of N acetylgalactosamine on serine, threonine or possibly tyrosine residues on a wide variety of proteins, and most commonly associated with mucins (Wandall et al. 1997). This reaction takes place in the Golgi apparatus (Rottger et al. 1998). There are 20 known members of the GALNT family, 15 of which have been characterised and 5 candidate members which are thought to belong to this family based on sequence similarity (Bennett et al. 2012). The GALNT-family is classified as belonging to CAZy family GT27. Defects in one of the GALNT family, GALNT12 (Guo et al. 2002) (MIM: 610290) can result in decreased glycosylation of mucins, mainly expressed in the digestive organs such as the stomach, small intestine and colon, and may play a role in colorectal cancer 1 (CRCS1; MIM:608812). CRCS1 is a complex disease characterised by malignant lesions arising from the inner walls of the colon and rectum (Guda et al. 2009, Clarke et al. 2012).
所含基因
18 个基因