CPS1 wt Allele

Preferred Label : CPS1 wt Allele;

NCIt synonyms : GATD6; Carbamoyl-Phosphate Synthase 1, Mitochondrial Gene; Carbamoyl-Phosphate Synthase 1 wt Allele; PHN; Carbamoylphosphate Synthetase I Gene; Carbamoyl-Phosphate Synthetase 1, Mitochondrial Gene; Carbamoyl-Phosphate Synthase (Ammonia) Gene; Carbamoyl Phosphate Synthetase 1 Gene; CPSASE1;

NCIt definition : Human CPS1 wild-type allele is located in the vicinity of 2q34 and is approximately 201 kb in length. This allele, which encodes carbamoyl-phosphate synthase [ammonia], mitochondrial protein, is involved in the metabolism of nitrogenous toxins. Loss of function mutations in the gene are associated with carbamoylphosphate synthetase I deficiency and increased susceptibility both to persistent neonatal pulmonary hypertension and to venoocclusive disease after bone marrow transplantation.;

NCI Metathesaurus CUI : CL1799146;

GenBank Accession Number : AF154830;

Details

Origin ID

C190625;

UMLS CUI

C5780758;

Automatic exact mappings (from CISMeF team)
- dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit [ORDO Gene]
OMIM relation
- Carbamoyl phosphate synthetase I [OMIM Phenotype]
See also inter- (CISMeF)
- Pulmonary hypertension, neonatal, susceptibility to [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Carbamoyl phosphate synthetase I [OMIM Phenotype]
- carbamoyl-phosphate synthase 1 [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2q34 [NCIt concept]
gene_is_element_in_pathway
- Alanine, Aspartate and Glutamate Metabolism Pathway [NCIt concept]
- Nitrogen Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Amino Acid Biosynthesis [NCIt concept]
- Detoxification [NCIt concept]
- Homeostatic Process [NCIt concept]
- Triglyceride Metabolism [NCIt concept]

Keyword's position in hierarchy(ies) :

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