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Gene : IGFALS Homo sapiens

Name  ? insulin like growth factor binding protein acid labile subunit Cytological Location  16p13.3
Brief Description  insulin like growth factor binding protein acid labile subunit
Description  The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
  • synonyms:
  • ALS,
  • IGFALS,
  • M86826,
  • OTTHUMG00000128638,
  • ALS,
  • ACLSD,
  • NM_001146006,
  • HGNC:5468,
  • uc002cmy.4,
  • insulin-like growth factor binding protein, acid labile subunit
  • identifiers:
  • 3483,
  • ENSG00000099769,
  • IGFALS

Genome feature

Region: gene ? Length: 4496  
Location: 16:1790413-1794908 reverse strand Cyto location: 16p13.3


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 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

3753 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results