rs147937942
This variant is located in the CPS1 gene.
▶ClinVar annotation
Congenital hyperammonemia, type I; not specified; CPS1-related disorder; not provided; Gastric cancer; Acute myeloid leukemia; Cervical cancer; Thyroid cancer, nonmedullary, 1; Nonpapillary renal cell carcinoma
View on ClinVar →About CPS1
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]
View all CPS1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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