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Gene : ALAD Homo sapiens

Name  ? aminolevulinate dehydratase Cytological Location  9q32
Brief Description  aminolevulinate dehydratase
Description  The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
  • synonyms:
  • M13928,
  • PBGS,
  • OTTHUMG00000020522,
  • HGNC:395,
  • ALADH,
  • NM_001003945,
  • ALAD,
  • ALADH,
  • uc011lxf.3,
  • porphobilinogen synthase,
  • PBGS,
  • aminolevulinate, delta-, dehydratase
  • identifiers:
  • 210,
  • ENSG00000148218,
  • ALAD

Genome feature

Region: gene ? Length: 15027  
Location: 9:113386312-113401338 reverse strand Cyto location: 9q32

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1 Diseases

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3753 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results