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Description for Protein ALAS2

aminolevulinate, delta-, synthase 2
2 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
2.3.1.37
KEGG - Orthology:
K00643
KEGG - Pathway(s):
hsa00260; hsa00860; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
ASB; ALASE; ALAS erythroid; Delta ALA synthetase; Aminolevulinate, delta, synthase 2; 5-aminolevulinic acid synthase erythroid specific mitochondrial; Aminolevulinate, delta, synthase 2 isoform b; Aminolevulinate, delta, synthase 2 isoform c; Aminolevulinate, delta, synthase 2 isoform d
Approved Symbol:
ALAS2
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 0
No human (de-) phosphorylation sites; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • Glycine(db);
  • Pyridoxal Phosphate(db)

    Associated Genetic Diseases:

  • Anemia, hereditary sideroblastic(Pd);
  • Anemia, hereditary sideroblastic, late-onset(Pd);
  • Anemia, hereditary sideroblastic, pyridoxine refractory(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02356 Entrez Gene ID: 212 OMIM ID: 301300 Swissprot Accession: P22557; A8K3F0; A8K6C4;