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

鸯铗痂蝈 蜞赕:

  • Gene: [0Xp1121/FGD1] rho/rac guanine nucleotide exchange factor; faciogenital dysplasia (Aarskog syndrome); [FGDY ]
  • 藻痨屙螓, 篦囫蜮簋 耔眚彗 沐爨
  • Gene: [03p211/ALAS1] delta-aminolevulinate synthase 1 (housekeeping);