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Gene : ALAS1 Homo sapiens

Name  ? 5'-aminolevulinate synthase 1 Cytological Location  3p21.2
Brief Description  5'-aminolevulinate synthase 1
description  This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
  • synonyms:
  • ALAS,
  • ALAS3,
  • uc062kkd.1,
  • ALASH,
  • HGNC:396,
  • ALAS,
  • ALAS-H,
  • ALAS1,
  • OTTHUMG00000158108,
  • MIG4,
  • NM_000688,
  • ALAS3,
  • aminolevulinate, delta-, synthase 1,
  • X56351
  • identifiers:
  • 211,
  • ENSG00000023330,
  • ALAS1

Genome feature

Region: gene ? Length: 16245  
Location: 3:52198083-52214327 Cyto location: 3p21.2


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Genomics

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Proteins

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SNPs

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Disease

0 Diseases

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

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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Other

100 SN Ps

5 Cross References

16 Data Sets

10 Homologues

0 Located Features

90 Rna Seq Results