基因名称：MAN1B1 （mannosidase alpha class 1B member 1）
别名： MRT15,ERMAN1,ERManI,MANA-ER
基因ID：11253
Chromosome(GRCh37) ：9 Start: 139981379 End: 140003639 Strand:
信号通路：
靶向药：
化疗药：
简介：这个基因编码一种属于糖基水解酶47家族的酶。该酶在N-聚糖生物合成中发挥作用，是一种I类α-1,2-甘露糖苷酶，专门将man9glcnac转化为man8glcnac异构体b。在内质网相关降解途径中，需要将N-聚糖修饰为man5-6glcnac2。该基因突变导致常染色体隐性智力残疾。选择性剪接导致多个转录变体。在11号染色体上发现了一个相关的假基因。[由RefSeq提供，2011年12月]This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011]
MAN1B1突变与药物：
