2024年12月25日 · MAN2B1 (Mannosidase Alpha Class 2B Member 1) is a Protein Coding gene. Diseases associated with MAN2B1 include Mannosidosis, Alpha B, Lysosomal and Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency. Among its related pathways are Innate Immune System and Glycosaminoglycan metabolism.

该基因编码一种酶，该酶可水解 alpha-D-甘露糖苷中的末端非还原性 alpha-D-甘露糖残基。 它的活性对于糖蛋白周转期间释放的 N-连接碳水化合物的分解代谢是必需的，它是糖基水解酶家族 38 的成员。 全长蛋白质分两步加工。 首先，一个 49 aa 的前导序列被切掉，剩余的蛋白质被加工成 70 kDa、42 kDa (D) 和 13/15 kDa (E) 的 3 个肽。 接下来，将 70 kDa 肽进一步加工成三种肽 (A、B 和 C) 。 A、B 和 C 肽是二硫键连接的。 该基因的缺陷与溶酶体α-甘露糖苷贮积症有关。 已 …

Gene ID: 4125, updated on 8-Feb-2025. 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.

2022年2月2日 · We found that MAN2B1 was elevated in glioma and was correlated with malignant clinical and molecular features. Upregulated expression of MAN2B1 is prognostic for poor outcomes in glioma patients. Different frequencies of somatic mutations were found in gliomas between high and low MAN2B1 expression.

2001年10月11日 · The diagnosis of alpha-mannosidosis is established in a proband by identification of deficiency of lysosomal enzyme acid alpha-mannosidase (MAN2B1) in leukocytes or other nucleated cells AND/OR by identification of biallelic pathogenic (or likely pathogenic) variants in MAN2B1 by molecular genetic testing .

More than 120 mutations in the MAN2B1 gene have been identified in people with alpha-mannosidosis, a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive facial …

Alpha-mannosidosis is caused by mutations in MAN2B1, leading to loss of lysosomal alpha-mannosidase activity. Symptoms include intellectual disabilities, hearing impairment, motor function disturbances, facial coarsening and musculoskeletal ...

2012年5月31日 · In 2 Palestinian sibs with alpha-mannosidosis (MANSA; 248500) originally reported by Bach et al. (1978), Nilssen et al. (1997) identified a homozygous mutation in the MAN2B1 gene (609458.0001). In unrelated patients with alpha-mannosidosis, Gotoda et al. (1998) identified 5 mutations in the MAN2B1 gene (609458.0001-609458.0005).

2016年12月15日 · 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.

Alpha mannosidosis is caused by hereditary mutations in the MAN2B1 (LAMAN) gene encoding lysosomal α-mannosidase 4A. Alpha mannosidosis has autosomal recessive inheritance. The MAN2B1 gene is composed of 24 exons and encodes a 1011 amino acid polypeptide that is post-translationally modified in the endoplasmic reticulum 5A.