Gene: [04q2/MANBA] mannosidase, beta A, lysosomal; mannosidosis, beta- (lysosomal beta-mannosidase deficiency);
COM | A gene (Bmn) controlling beta-mannosidase activity in the mouse is located in the distal part of Chr 3 and, arguing from homology, the gene for beta-mannosidase may be located on human Chr 4 (Lundin-1987)." |
REL | GEM:00.0/MANBB. |
REF | CLO,SEQ,LOC,MUT "Alkhayat AH &: Hum Mol Genet, 7, N1, 75-83,
1998 CLO,EXP,BOV "Chen H &: JBC, 270, 3841-3848, 1995 MET,PAT "Cooper A &: J Inherit Metab Dis, 11, 17-29, 1988 MET,PAT "Dorland L &: J Inherit Metab Dis, 11, (Suppl 2), 255-258, 1988 MET,PAT "Jones MZ &: J Neuropath Exp Neurol, 42, 268-285, 1983 MET,PAT "Jones MZ &: JBC, 256, 5185-5188, 1981 MET,PAT "Kleijer WJ &: J Inherit Metab Dis, 13, 867-872, 1990 MET,PAT "Levade T &: Ann Neurol, 35, 116-119, 1994 MET,PAT "Lovell KL, Jones MZ: Acta Neuropathol, 62, 121-126, 1983 LOC,MOU "Lundin L-G: Biochem Genet, 25, 603-610, 1987 MET,PAT "Malachowski JA, Jones MZ: Acta Neuropathol, 61, 95-100, 1983 MET,PAT "Poenaru L &: Clin Genet, 41, 331-334, 1992 MET,PAT "Wenger DA &: New Engl J Med, 315, 1201-1205, 1986 |
SWI | SWISSPROT: O00462 |
KEY | carb, lys |
CLA | coding, basic |
LOC | 04 q22-25 |
MIM | MIM: 248510 |
EZN | ENZYME: 3.2.1.25 |
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