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

EZN

ENZYME: 3.2.1.22

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  • Альфа-галактозидаза A. Строение гена GLA