Gene: [19q1/MANB] mannosidase, alpha B, lysosomal; mannosidosis, alpha- (lysosomal alpha-mannosidase B deficiency);
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FUN |
Systematic name: alpha-D-mannoside mannohydrolase. The enzyme catalyzes hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Also can hydrolyse alpha-D-lyxosides and heptopyranosides with the same configuration at C-2, C-3 and C-4 as mannose." |
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HET |
Beta-mannosidosis described in MIM:248510 is related to beta-mannosidase deficiency. The gene for this enzyme has been identified in Chr 4q2 (GEM:04q2/MANBA)." |
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REF |
LOC "Bachinski LL &: AJHG, 52, N2, 375-387, 1993 LIN,MAP "Bachinski LL &: CCG, 51, (HGM10), 954-955, 1989 LOC,CYG,EXP "Ingram PH &: Biochem Genet, 15, 455-476, 1977 LOC,LIN "Kaneda Y &: Chromosoma, 95, 8-12, 1987 CLO,SEQ,STR,LOC,FUN "Nebes VL &: BBRC, 200, 239-245, 1994 CLO,SEQ,GEN "Riise HMF &: Genomics, 42, N2, 200-207, 1997 |
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KEY |
carb, lys, mtbd |
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CLA |
coding, basic |
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LOC |
19 q11-13.1 |
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MIM |
MIM: 248500 |
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EZN |
ENZYME: 3.2.1.24 |
