MAN2B1 Gene - GeneCards | MA2B1 Protein | MA2B1 Antibody
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 …
甘露糖苷酶 alpha 2B 类成员 1（MAN2B1）基因 | MCE
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 …
MAN2B1 mannosidase alpha class 2B member 1 [ (human)]
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 …
Immune Infiltration Associated MAN2B1 Is a Novel Prognostic
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 …
Alpha-Mannosidosis - GeneReviews® - NCBI Bookshelf
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 …
MAN2B1 gene - MedlinePlus
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 …
Alpha-mannosidosis: correlation between phenotype, genotype …
Alpha-mannosidosis is caused by mutations in MAN2B1, leading to loss of lysosomal alpha-mannosidase activity. Symptoms include intellectual disabilities, hearing impairment, motor …
Entry - *609458 - MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1 …
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 mannosidase alpha class 2B member 1 - NIH Genetic …
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 …
MAN2B1 mutations: Mechanism of Alpha Mannosidosis
Alpha mannosidosis is caused by hereditary mutations in the MAN2B1 (LAMAN) gene encoding lysosomal α-mannosidase 4A. Alpha mannosidosis has autosomal recessive inheritance. The …
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