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Gene : AHSP Homo sapiens

Name  ? alpha hemoglobin stabilizing protein Cytological Location  16p11.2
Brief Description  alpha hemoglobin stabilizing protein
description  This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been transferred to beta-globin to form a heterodimer, which in turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
  • synonyms:
  • AF208865,
  • NM_016633,
  • EDRF,
  • OTTHUMG00000132461,
  • EDRF,
  • uc002ecj.4,
  • ERAF,
  • erythroid associated factor,
  • alpha hemoglobin stabilising protein,
  • ERAF,
  • AHSP,
  • HGNC:18075
  • identifiers:
  • 51327,
  • ENSG00000169877,
  • AHSP

Genome feature

Region: gene ? Length: 953  
Location: 16:31527852-31528804 Cyto location: 16p11.2


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 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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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

154 SN Ps

5 Cross References

15 Data Sets

2 Homologues

0 Located Features

90 Rna Seq Results