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Gene : ALAS2 Homo sapiens

Name  ? 5'-aminolevulinate synthase 2 Cytological Location  Xp11.21
Brief Description  5'-aminolevulinate synthase 2
description  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, Jul 2008]
  • synonyms:
  • SIDBA1,
  • NM_000032,
  • ASB,
  • ALAS2,
  • HGNC:397,
  • XLEPP,
  • aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia),
  • XLDPP,
  • ANH1,
  • ALASE,
  • uc004dua.4,
  • OTTHUMG00000021641,
  • ALAS-E,
  • sideroblastic/hypochromic anemia,
  • XLSA,
  • ASB,
  • aminolevulinate, delta-, synthase 2
  • identifiers:
  • 212,
  • ENSG00000158578,
  • ALAS2

Genome feature

Region: gene ? Length: 22010  
Location: X:55009055-55031064 reverse strand Cyto location: Xp11.21


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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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Disease

2 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

40 SN Ps

5 Cross References

19 Data Sets

10 Homologues

0 Located Features

90 Rna Seq Results