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Gene : AMPD3 Homo sapiens

Name  ? adenosine monophosphate deaminase 3 Cytological Location  11p15.4
Brief Description  adenosine monophosphate deaminase 3
description  This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]
  • synonyms:
  • erythrocyte-specific AMP deaminase,
  • adenosine monophosphate deaminase (isoform E),
  • M84722,
  • HGNC:470,
  • uc001mio.2,
  • OTTHUMG00000165682,
  • AMPD3,
  • NM_000480
  • identifiers:
  • 272,
  • ENSG00000133805,
  • AMPD3

Genome feature

Region: gene ? Length: 57259  
Location: 11:10450321-10507579 Cyto location: 11p15.4


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Function

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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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Interactions

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Expression

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

Gene Ontology

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Other

2011 SN Ps

5 Cross References

19 Data Sets

11 Homologues

0 Located Features

90 Rna Seq Results