CPS1 (Entrez ID: 1373)

Entrez Gene ID	1373
Official Gene Symbol	CPS1 (GeneCards)
Full name	carbamoyl-phosphate synthase 1
Location	2q34
Other ids	Vega : OTTHUMG00000132994 MIM : 608307 HGNC : HGNC:2323 Ensembl : ENSG00000021826
Other names	PHN, CPSASE1
Summary	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]

Variants

Found 10 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
2931	1373	CPS1	2	211788375	211788375	Asymptomatic	HiSeq X Ten
2999	1373	CPS1	2	211852581	211852581	Asymptomatic	HiSeq X Ten HiSeq 2000
3185	1373	CPS1	2	212049103	212049103	Asymptomatic	HiSeq X Ten HiSeq 2000
3456	1373	CPS1	2	211384480	211384480	Asymptomatic	HiSeq X Ten HiSeq 2000
3707	1373	CPS1	2	211757865	211757865	Asymptomatic	HiSeq X Ten HiSeq 2000
3740	1373	CPS1	2	211936789	211936789	Asymptomatic	HiSeq X Ten HiSeq 2000
4113	1373	CPS1	2	211372765	211372765	Asymptomatic	HiSeq X Ten HiSeq 2000
4375	1373	CPS1	2	211790594	211790594	Cockayne syndrome	HiSeq X Ten HiSeq 2000
24653	1373	CPS1	2	211735302	211735302	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
24975	1373	CPS1	2	211541810	211541810	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning