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Description

The MAN2B1 gene (mannosidase alpha class 2B member 1) [HGNC Gene ID:6826] is located on chromosome 19p13.2. 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] [NCBI Gene ID:4125] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name
MAN2B1 gene
Part Display Name
MAN2B1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-03-17
Construct for LOINC Short Name
MAN2B1

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP208416-0

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)MAN2B1 基因
Synonyms: 甘露糖苷酶 α类 2B 成员 1;甘露糖苷酶 Alpha 类 2B 成员 1;甘露糖苷酶, Alpha, 类 2B, 成员 1;溶酶体酸性 Alpha-甘露糖苷酶;甘露糖苷酶 Alpha-B;Mannosidase Alpha Class 2B Member 1;Mannosidase, Alpha, Class 2B, Member 1;Lysosomal Acid Alpha-Mannosidase;Mannosidase Alpha-B;EC 3.2.1.24;LAMAN;MANB
es-ESSpanish (Spain)Gen MAN2B1
it-ITItalian (Italy)gene MAN2B1
nl-NLDutch (Netherlands)MAN2B1-gen
Synonyms: MAN2B1 gen
fr-FRFrench (France)MAN2B1 gène
pl-PLPolish (Poland)MAN2B1 gen
Synonyms: Gen MAN2B1
el-GRGreek (Greece)Γονίδιο MAN2B1
Synonyms: Γονίδιο MAN2B1