Carbamoyl Phosphate Synthetase I

Alternative Names

  • CPS1
  • Venoocclusive Disease after Bone Marrow Transplantation, Susceptibility to
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OMIM Number

608307

NCBI Gene ID

1373

Uniprot ID

P31327

Length

201,426 bases

No. of Exons

40

No. of isoforms

3

Protein Name

Carbamoyl-phosphate synthase [ammonia], mitochondrial

Molecular Mass

164939 Da

Amino Acid Count

1500

Genomic Location

chr2:210,477,682-210,679,107

Gene Map Locus
2q34

Description

The CPS1 gene encodes a mitochondrial enzyme called carbamoyl phosphate synthetase I. This protein plays an important role in the urea cycle, which is important in the removal of excess urea from cells. It catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate, which is the first committed step in the urea cycle to excrete the excess nitrogen from the body.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001122633.2:c.4235C>AUnited Arab EmiratesNC_000002.12:g.210675783C>ABenignNG_008285.1:g.203099C>A; NM_001122633.2:c.4235C>A; NP_001116105.1:p.Thr1412Asn1047891128852
NM_001875.4:c.1590dupOman; United Arab Emir...NC_000002.12:g.210600595dupLikely Pathogenic, PathogenicCarbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia due toNG_008285.1:g.127911dup; NM_001875.4:c.1590dup; NP_001866.2:p.Val531CysfsTer9
NM_001875.4:c.3558+1G>CLebanonNC_000002.12:g.210654103G>CPathogenicPathogenicCarbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia due toNG_008285.1:g.181419G>C ; NM_001875.4:c.3558+1G>C; NP_001866.2:p.?155912937230720
NM_001875.4:c.4101+2T>CLebanonNC_000002.12:g.210668286T>CPathogenicPathogenicCarbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia due toNG_008285.1:g.195602T>C ; NM_001875.4:c.4101+2T>C; NP_001866.2:p.?767575696552974
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