Gene: [01p34/FUCA1] alpha-L-fucosidase 1, tissue; fucosidosis (alpha-L-fucosidase deficiency);
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FUN |
[1] Systematic name: alpha-L-fucoside fucohydrolase.
[2] Reaction catalyzed: an alpha-L-fucoside + H(2)O = an alcohol + L-fucose." |
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GEN |
The gene length: 22 kb. Processed transcript: 2.25 kb. |
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FAG |
The gene for the second (serum) isoform is mapped to chromosome 6q (GEM:06q2/FUCA2). It is the relationship of FUCA1 with an alpha fucosidase regulator (GEM:01p34/FUCA1RA) that remains unclear: the putative gene is included only in the MIM catalogue and is not registred in the GDB." |
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PSG |
GEM:02q3/FUCA1P |
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MAP |
Loci: GEM:01p362/NPPA; GEM:01p3/ALPL; GEM:01p36/FGR; GEM:01p3/RHCE;
GEM:01p32/MYCL1.
[1] See GEM:01p36/FGR." |
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PAT |
Three clinical forms of the fucosidosis are recognized. Forms I and II are severe, with early ages of onset (before 2 years of age); form III is characterized by later ages of onset (young or adult) and slower progression of the disease. Since FUCA1 is a homotetramere, the clinical and genetic heterogeneity might be due to multiple alleles. Deletions in the FUCA1 gene are already found for forms I and II." |
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REF |
FOG,POG "Beyer EM &: Clin Chim Acta, 123, 251-259, 1982 PAT,MOL "Blitzer MG &: Am J Med Genet, 20, 535-539, 1985 FAG "Carritt B, Welch HM: Hum Genet, 75, 248-250, 1987 LOC,LIN "Carritt B &: Ann Hum Genet, 46, 329-335, 1982 LOC,LIN "Corney G &: Ann Hum Genet, 40, 403-405, 1977 GEN,MUT,POL "Coucke P &: CCG, 57, 120-122, 1991 GEN,MUT,POL "Darby JK &: AJHG, 43, 749-755, 1988 PAT,MOL "Di Matteo G &: BBA, 427, 538-545, 1976 LOC,LIN "Dracopoli NC &: Genomics, 9, N4 (Apr), 686-700, 1991 HIS,PHE,FOG "Durand P &: J Pediatr, 75, 665-674, 1969 HIS,PHE,FOG "Durand P &: Lancet, 1, 1313-1314, 1966 HIS,PHE,FOG "Epinette WW &: Arch Derm, 107, 754-757, 1973 LOC,LIN "Fisher RA &: CCG, 22, (HGM4), 381-383, 1978 LOC,LIN "Fowler ML &: CCG, 43, 103-108, 1986 PRO,SEQ "Fukushima H &: PNAS, 82, N4 (1 Feb), 1262-1265, 1985 HIS,PHE,FOG "Ikeda S &: Neurology, 34, 451-456, 1984 PAT,MOL "Johnson K, Dawson G: BBRC, 133, 90-97, 1985 LOC,LIN "Koch GA &: CCG, 22, (HGM4), 389-391, 1978 HIS,PHE,FOG "Kousseff BG &: Pediatrics, 57, 205-213, 1976 HIS,PHE,FOG "Kousseff BG &: Lancet, 2, 1387-1388, 1973 GEN,MUT,POL "Kretz KA &: Genomics, 12, N2 (Feb), 276-280, 1992 GEN,MUT,POL "Kretz KA &: J Mol Neurosci, 1, 177-180, 1989 IDN,FUN,PEP "Levvy GA, McAllan A: Biochem J, 80, 435-?, 1961 HIS,PHE,FOG "Loeb H &: Helv Paediat Acta, 24, 519-537, 1969 FOG,POG "Ng WG &: AJHG, 28, 42-50, 1976 GEN,SEQ,MUT,POL "O'Brien JS &: Enzyme, 38, 45-53, 1987 SEQ "Occhiodoro T &: BBRC, 164, N1, 439-445, 1989 PND "Poenaru L &: Clin Genet, 10, 260-264, 1976 FUN,PEP "Reglero A, Cabezeas JA: Eur J Biochem, 66, N2, 379-387, 1976 FOG,POG "Romeo G &: Lancet, 1, 368-369, 1977 FOG,POG "Sangiorgi S &: Hum Hered, 32, 100-105, 1982 HIS,PHE,FOG "Schoonderwaldt HC &: Clin Genet, 18, 348-354, 1980 GEN,MUT,POL "Seo HC &: Hum Mol Genet, 2, N8 (Aug), 1205-1208, 1993 IDN,FUN,PEP "Tanaka K &: BBRC, 164, 1253-1261, 1989 LOC,LIN "Turner BM &: Somat Cell Genet, 4, 45-54, 1978 FOG,POG "Turner BM &: AJHG, 27, 651-656, 1975 GEN,MUT,POL "Willems PJ &: AJHG, 43, 756-763, 1988 GEN,MUT,POL "Williamson M &: J Med Genet, 30, 218-223, 1993 FOG,POG "Wood S: Hum Hered, 29, 226-229, 1979 GEN,MUT,POL "Yang M &: BBRC, 189, 1063-1068, 1992 |
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KEY |
lys, mtbd, carb, neu |
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CLA |
coding, basic |
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LOC |
01 p34 |
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MIM |
MIM: 230000 |
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EZN |
ENZYME: 3.2.1.51 |
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