Gene: [0Xp1121/ALAS2] delta-aminolevulinate synthase 2 (red cell specific); sideroblastic anemia (ASB; hypochromic; hereditary iron-loading anemia);
FUN | Systematic name: succinyl-CoA:glycine C-succinyl-transferase (decarboxylating). The reaction catalyzed: succinyl-CoA + glycine = 5-aminolevulinate + CoA + CO(2). Cofactor: piridoxalephosphate." |
PAT | Cotter-1992b,1994,1995 and Cox-1994 demonstrated point mutations in the ALAS2 gene in a patient with X-linked sideroblastic anemia." |
REF | LOC,MOL "Astrin,
Bishop: CCG, 51, (HGM10), 953-954, 1989 CLO,SEQ "Bishop DF: NAR, 18, 7187-7187, 1991 CLO,LOC "Bishop DF &: Genomics, 7, 207-214, 1990 HIS,PHE,FOG "Byrd, Gooper: Ann Int Med, 55, 103-123, 1961 HIS,PHE,FOG "Cooley TB: Am J Med Sci, 209, 561-568, 1945 MUT,PAT "Cotter PD &: J Clin Invest, 96, 2090-2096, 1995 MUT,PAT "Cotter PD &: Blood, 84, 3915-3924, 1994 LOC "Cotter PD &: Genomics, 13, 211-212, 1992a MUT,PAT "Cotter PD &: PNAS, 89, 4028-4032, 1992b MUT,PAT "Cox TC &: New Engl J Med, 330, 675-679, 1994 LOC,CYG "Dewald &: Blood, 59, 100-105, 1985 HIS,PHE,FOG "Peto &: Lancet, 1, 375-378, 1983 HIS,PHE,FOG "Rundles, Falls: Am J Med Sci, 211, 642-658, 1946 LOC,CYG "Sessarego M &: Acta Haematol, 70, 134-136, 1983 LOC,CYG "Weatherall &: Lancet, 2, 744-748, 1970 |
SWI | SWISSPROT: P22557 |
KEY | mito, hem, aac, lip, mtbd |
CLA | coding, basic |
LOC | 0X p11.21 |
MIM | MIM: 301300 |
EZN | ENZYME: 2.3.1.37 |
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