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This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  此基因编码UDP-N-乙酰基的α-D-半乳糖胺的成员:多肽N-二acetylgalactosaminyltransferase胺(GalNAc-T)的酶家族。的GalNAc-TS通过催化将GalNAc转移到丝氨酸和苏氨酸残基的目标蛋白启动在高尔基体的粘蛋白型O-连接的糖基化。它们通过N-末端跨膜结构域,一个干区,含有GT1基序和Gal /半乳糖胺转移酶基序的腔催化结构域和C-末端蓖麻/凝集素样结构域为特征。半乳糖胺-TS有不同,但重叠的底物特异性和表达模式。该基因是在大脑中特异表达,在小脑最高表达。已发现该基因编码不同亚型的多个抄本变形。 [由RefSeq的,2008年7月提供]
GALNT9基因(以及对应的蛋白质)的细胞分布位置:
GALNT9基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
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