KEGG   NETWORK: N00609
Entry
N00609                      Network                                

Name
ALAS2 deficiency in heme biosynthesis
Definition
Gly -- ALAS2*
  Expanded
C00037 -- 212v1
Class
nt06011 Heme biosynthesis
Type
Variant
Disease
H01763  Porphyria
Gene
212  ALAS2; 5'-aminolevulinate synthase 2
Variant
212v1 (ALAS2*)  ALAS2 deficiency
Metabolite
C00037  Glycine
Reference
  Authors
Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, Holme SA, Anstey AV, Parker M, Corrigall AV, Meissner PN, Hift RJ, Marsden JT, Ma Y, Mieli-Vergani G, Deybach JC, Puy H
  Title
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
  Journal
Am J Hum Genet 83:408-14 (2008)
DOI:10.1016/j.ajhg.2008.08.003
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