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FLASH GENE
Symbol ALAS2 contributors: mct - updated : 09-07-2012
HGNC name aminolevulinate, delta-, synthase 2
HGNC id 397
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • C-terminal ALAS2 AAs, identifying a region critical for the formation of an ALAS2·succinyl-CoA synthetase (SCS) enzyme complex that presumably is required for normal heme biosynthesis in mitochondria
    • HOMOLOGY
    interspecies homolog to murine Alas2
    Homologene
    FAMILY
  • class II of pyridoxal phosphate dependent aminotransferase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,nucleus
    text
  • appears to be localized to the matrix side of the inner mitochondrial membrane in erythroid cells
    • basic FUNCTION
  • aminolevulinate, delta-,synthase 2, catalyzing the first step of porphyrin biosynthesis
  • probable role of an ALAS2-succinyl-CoA synthetase complex in the regulation of erythroid heme biosynthesis
  • rate-limiting enzyme for erythroid heme biosynthesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism porphyrin/heme
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • pyridoxal phosphate
    • protein
  • unique interaction of SUCLA2 with ALAS2 is involved in an important erythroid-specific function
    • cell & other
    REGULATION
    induced by TGF-beta1, which may contribute to terminal differentiation of erythroid cells
    ASSOCIATED DISORDERS
    corresponding disease(s) ASB , EPPX
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation     gain of function
    ALAS2 gain-of-function mutation contributes to the CEP (congenital erythropoietic porphyria) phenotype underscores the importance of modifier genes underlying CEP
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS