CAD (protein): Difference between revisions

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'''CAD protein''' ('''carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase''') is a trifunctional multi-[[protein domain|domain]] enzyme involved in the first three steps of [[pyrimidine biosynthesis]]. De-novo synthesis starts with [[cytosol]]ic [[carbamoylphosphate synthetase II]] which uses [[glutamine]], [[carbon dioxide]] and [[adenosine triphosphate|ATP]]. This enzyme is inhibited by [[uridine triphosphate]] ([[Negative feedback|feedback inhibition]]).
'''CAD protein''' ('''carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase''') is a trifunctional multi-[[protein domain|domain]] enzyme involved in the first three steps of [[pyrimidine biosynthesis]]. De-novo synthesis starts with [[cytosol]]ic [[carbamoylphosphate synthetase II]] which uses [[glutamine]], [[carbon dioxide]] and [[adenosine triphosphate|ATP]]. This enzyme is inhibited by [[uridine triphosphate]] ([[Negative feedback|feedback inhibition]]).


In 2015, the first observed pathological mutations of ''CAD'' were found in a four-year-old boy.<ref>{{cite journal | vauthors = Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH | title = Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors | journal = Human Molecular Genetics | volume = 24 | issue = 11 | pages = 3050–7 | date = June 2015 | pmid = 25678555 | doi = 10.1093/hmg/ddv057 | pmc=4424951}}</ref>
In 2015, the first observed pathological mutations of ''CAD'' were found in a four-year-old boy.<ref>{{cite journal | vauthors = Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH | title = Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors | journal = Human Molecular Genetics | volume = 24 | issue = 11 | pages = 3050–7 | date = June 2015 | pmid = 25678555 | pmc = 4424951 | doi = 10.1093/hmg/ddv057 }}</ref>
 
CAD protein has been observed in the mid-piece of mammalian spermatozoa, among the mitochondria.<ref>{{cite journal | vauthors = Carrey EA, Dietz C, Glubb DM, Löffler M, Lucocq JM, Watson PF | title = Detection and location of the enzymes of de novo pyrimidine biosynthesis in mammalian spermatozoa | journal = Reproduction | volume = 123 | issue = 6 | pages = 757–68 | date = June 2002 | pmid = 12052230 | doi = 10.1530/rep.0.1230757 }}</ref>


== References ==
== References ==
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[[Category:EC 3.5.2]]
[[Category:EC 3.5.2]]
[[Category:EC 6.3.5]]
[[Category:EC 6.3.5]]


{{biochemistry-stub}}
{{biochemistry-stub}}

Latest revision as of 08:01, 14 November 2018

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Identifiers
SymbolCAD
Entrez790
HUGO1424
OMIM114010
RefSeqNM_004341
UniProtP27708
Other data
EC number2.1.3.2
LocusChr. 2 p21

CAD protein (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase) is a trifunctional multi-domain enzyme involved in the first three steps of pyrimidine biosynthesis. De-novo synthesis starts with cytosolic carbamoylphosphate synthetase II which uses glutamine, carbon dioxide and ATP. This enzyme is inhibited by uridine triphosphate (feedback inhibition).

In 2015, the first observed pathological mutations of CAD were found in a four-year-old boy.[1]

CAD protein has been observed in the mid-piece of mammalian spermatozoa, among the mitochondria.[2]

References

  1. ↑ Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH (June 2015). "Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors". Human Molecular Genetics. 24 (11): 3050–7. doi:10.1093/hmg/ddv057. PMC 4424951. PMID 25678555.
  2. ↑ Carrey EA, Dietz C, Glubb DM, Löffler M, Lucocq JM, Watson PF (June 2002). "Detection and location of the enzymes of de novo pyrimidine biosynthesis in mammalian spermatozoa". Reproduction. 123 (6): 757–68. doi:10.1530/rep.0.1230757. PMID 12052230.

External links

Retrieved from "https://www.wikidoc.org/index.php?title=CAD_(protein)&oldid=1531499"