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Literature summary for 3.2.1.24 extracted from

  • Pittis, M.G.; Montalvo, A.L.; Heikinheimo, P.; Sbaragli, M.; Balducci, C.; Persichetti, E.; Van Maldergem, L.; Filocamo, M.; Bembi, B.; Beccari, T.
    Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis (2007), Clin. Chim. Acta, 375, 136-139.
    View publication on PubMed
Search for more literature for 3.2.1.24

Crystallization (Commentary)

Crystallization (Comment) Organism
structual 3D analysis Homo sapiens

Protein Variants

Protein Variants Comment Organism
DELTAT887 T887SfsX45, c.2660delC causes a frameshift introducing a premature stop codon (p.T887SfsX45) Homo sapiens
H200N missense mutantion c.597 C>A. Equal deleterious effect missense mutations indicating disease-causing mutations Homo sapiens
L518P missense mutantion c.1553 T Homo sapiens
R916S missense mutantion c.2746 C>A, spatially close to the oldest known inherited alpha mannosidosis mutation p.R750W. Equal deleterious effect missense mutations indicating disease-causing mutations Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
120000
-
 LAMAN 120 kDa precursor detected in wild type and mutant constructs. Western blot analysis Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens O00754 MA2B1_HUMAN
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4-methylumbelliferyl-alpha-D-mannopyranoside
-
 Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
alpha-mannosidase acidic exoglycosidase, belonging to glycosylhydrolase family 38 Homo sapiens
Laman
-
 Homo sapiens
lysosomal alpha-mannosidase
-
 Homo sapiens