人 MAN2B1 (NM_000528) cDNA克隆

Accession: NM_000528
基因名称: MAN2B1
基因别名: MANB; LAMAN
基因描述: Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.
种属: Human
CDS区长度: 3036 (查看编码区序列)
翻译后氨基酸长度: 1011 (查看氨基酸序列)
Transcript Variant: This variant (1) encodes the longer isoform (1).
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G152319 人 MAN2B1 (NM_000528) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]