Gene: [0Xq2/GLA] galactosidase, alpha (Fabry angiokeratoma, diffuse); ceramidetrihexosidase deficiency (Fabry dystopic lipidosis); lipidosis, dystopic (Anderson-Fabry disease; GLA deficiency); angiokeratoma, Fabry disease (dystopic lipidosis);
|
GEN |
The gene length is 12 kb. Exons: 7; introns: 6. The primary translation product consists of 429 amino acid residues, including the signal peptide, which is 31 amino acid residues in length." |
|
REF |
HIS,PHE,PAT "Anderson W: Brit J Derm, 10, 113-117, 1898 MGC "Beaudet, Caskey: Clin Genet, 13, 251-258, 1978 MUT,MOL,CAG "Bernstein HS &: J Clin Invest, 83, 1390-1399, 1989 MGC "Bird, Lagunoff: Ann Neurol, 4, 537-540, 1978 GEN,SEQ,MOP "Bishop DF &: PNAS, 85, N11, 3903-3907, 1988 COD,SEQ,MOP "Bishop DF &: PNAS, 83, N13, 4859-4863, 1986 PHE,PAT,MEB "Brady &: New Engl J Med, 276, 1163-1167, 1967 PHE,PAT,MEB "Broadbent &: Mayo Clin Proc, 56, 623-628, 1981 MGC "Cable &: Neurology, 32, 1139-1145, 1982 COD,PRO "Calhoun DH &: PNAS, 82, N21, 7364-7368, 1985 TER "Clement &: J Roy Soc Med, 75, 557-560, 1982 PHE,PAT,MEB "Colucci &: New Engl J Med, 307, 926-931, 1982 LOC,CYG,MOL "Desnick &: Clin Res, 34, 717A, 1986 MAP,LIN,FOG "Franceschetti &: Dermatologica, 138, 209-221, 1969 TER "Friedlaender &: Clin Nephrol, 27, 206-211, 1987 PHE,PAT,MEB "Frost &: Am J Med, 40, 618-627, 1966 PHE,PAT,MEB "Hamers &: Acta Med Scand, 206, 5-10, 1979 PHE,PAT,MEB "Hasholt, Sorensen: Hum Genet, 72, 72-76, 1986 MAP,LIN,FOG "Johnston AW, Sanger: Ann Hum Genet, 45, 155-157, 1981 MAP,LIN,FOG "Johnston AW&: Ann Hum Genet, 32, 369-374, 1969 PHE,PAT,MEB "Kint JA: Science, 167, 1268-1269, 1970 GEN,SEQ,STR "Kornreich R &: NAR, 17, 3301-3302, 1989 MOD,MOU,PAT,FOG,LIN "Lusis, West: Biochem Genet, 14, 849-855, 1976 LOC,LIN,MOL "MacDermot &: CCG, 46, (HGM9), 654, 1987a LOC,LIN,MOL "MacDermot &: Hum Genet, 77, 262-263, 1987b MGC "Mutoh &: Arch Neurol, 45, 468-472, 1988 CLO,SEQ,MAP "Oeltjen JC &: Genome Res, 7, N4, 315-329, 1997 MAP,LIN,FOG "Opitz &: AJHG, 17, 325-342, 1965 PHE,PAT,MEB "Patel &: Science, 176, 426-428, 1972 MGC "Phillippart &: Pediatrics, 43, 201-206, 1969 MAP,LIN,FOG "Pierides &: J Med Genet, 13, 455-461, 1976 GEN,TRC "Quinn M &: Gene, 58, N2-3, 177-188, 1987 MGC "Rodriguez &: Arch Path Lab Med, 109, 89-91, 1985 MAP,LIN,FOG "Romeo &: FEBS Lett, 27, 161-166, 1972 MAP,LIN,FOG "Romeo, Migeon: Science, 170, 180-181, 1970 MAP,LIN,FOG "Ropers &: AJHG, 29, 361-370, 1977 MAP,LIN,FOG "Sakuraba &: Clin Genet, 29, 276-283, 1986 MGC "Sheth &: Am J Med Genet, 10, 141-146, 1981 LOC,CYG,MOL "Shows TB &: CCG, 22, (HGM4), 541-544, 1978 PHE,PAT,MEB "Sorensen, Hasholt: Ann Hum Genet, 43, 313-321, 1980 HIS,PHE,PAT "Sweeley, Klionsky: JBC, 238, 3148-3150, 1963 HIS,PHE,PAT "Wise &: Quart J Med, 31, 177-206, 1962 |
|
KEY |
mtbd, lys, derm, ren, neu, card, eye |
|
CLA |
coding, basic |
|
LOC |
0X q21.3-22 |
|
MIM |
MIM: 301500 |
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EZN |
ENZYME: 3.2.1.22 |
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