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Gene : CPS1 Homo sapiens

Name  ? carbamoyl-phosphate synthase 1 Cytological Location  2q34
Brief Description  carbamoyl-phosphate synthase 1
Description  The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]
  • synonyms:
  • OTTHUMG00000132994,
  • uc002vee.5,
  • carbamoyl-phosphate synthase 1, mitochondrial,
  • CPSASE1,
  • carbamoyl-phosphate synthase (ammonia),
  • CPS1,
  • HGNC:2323,
  • NM_001122633,
  • carbamoyl-phosphate synthetase 1, mitochondrial,
  • AF154830,
  • PHN
  • identifiers:
  • 1373,
  • ENSG00000021826,
  • CPS1

Genome feature

Region: gene ? Length: 201423  
Location: 2:210477685-210679107 Cyto location: 2q34

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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]


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Gene --> GO terms.



3740 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results