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Gene : CARNS1 Homo sapiens

Name  ? carnosine synthase 1 Cytological Location  11q13.2
Brief Description  carnosine synthase 1
Description  CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010]
  • synonyms:
  • CARNS1,
  • ATP-grasp domain containing 1,
  • uc058egc.1,
  • HGNC:29268,
  • ATPGD1,
  • KIAA1394,
  • NM_020811,
  • OTTHUMG00000167672,
  • ATPGD1
  • identifiers:
  • 57571,
  • ENSG00000172508,
  • CARNS1

Genome feature

Region: gene ? Length: 9930  
Location: 11:67415678-67425607 Cyto location: 11q13.2


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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

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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Interactions

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Expression

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

Gene Ontology

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Other

3753 SN Ps

5 Cross References

16 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results