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Gene : HMBS Homo sapiens

Name  ? hydroxymethylbilane synthase Cytological Location  11q23.3
Brief Description  hydroxymethylbilane synthase
Description  This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
  • synonyms:
  • porphyria, acute; Chester type,
  • PBG-D,
  • HGNC:4982,
  • HMBS,
  • PBGD,
  • NM_000190,
  • uc001puz.2,
  • X04808,
  • PORC,
  • PORC,
  • UPS,
  • PBGD,
  • porphobilinogen deaminase,
  • uroporphyrinogen I synthase,
  • OTTHUMG00000168295,
  • UPS
  • identifiers:
  • 3145,
  • ENSG00000256269,
  • HMBS

Genome feature

Region: gene ? Length: 8686  
Location: 11:119084864-119093549 Cyto location: 11q23.3


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Gene -> HPO annotation (Human Phenotype Ontology)

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

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Expression

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Other

3753 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results