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OTC

ornithine carbamoyltransferase

This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also.

Gene Name:	ornithine carbamoyltransferase
Synonyms:	OTC, OCTD, Ornithine carbamoyltransferase, Ornithine transcarbamylase, OTCase
Target Sequences:	NM_000531 NP_000522.3 P00480

Publications (3)

Shotgun proteomics analysis of hibernating arctic ground squirrels. Shao C, Liu Y, Ruan H, Li Y, Wang H, Kohl F, Goropashnaya AV, Fedorov VB, Zeng R, Barnes BM, Yan J. Molecular & cellular proteomics : MCP. 2010 9:313-26. (WB; Ground squirrel) [Full Text Article] [PubMed:19955082] [PMC:PMC2830842] Related Antibodies: LS-C31865.

Downregulating carnitine palmitoyl transferase 1 affects disease progression in the SOD1 G93A mouse model of ALS. Michael Sloth Trabjerg, Dennis Christian Andersen, Pam Huntjens, Kirsten Egelund Oklinski, Luise Bolther, Jonas Laugård Hald, Amalie Elton Baisgaard, Kasper Mørk, Nikolaj Warming, Ulla Bismark Kullab, Lona John Kroese, Colin Eliot Jason Pritchard, Ivo Johan Huijbers, John Dirk Vestergaard Nieland. Communications biology. 2021 April;4:509. [Full Text Article] [PubMed:33931719] [PMC:PMC8087699]

Urea Cycle Dysregulation Generates Clinically Relevant Genomic and Biochemical Signatures. Joo Sang Lee, Lital Adler, Hiren Karathia, Narin Carmel, Shiran Rabinovich, Noam Auslander, Rom Keshet, Noa Stettner, Alon Silberman, Lilach Agemy, Daniel Helbling, Raya Eilam, Qin Sun, Alexander Brandis, Sergey Malitsky, Maxim Itkin, Hila Weiss, Sivan Pinto, Shelly Kalaora, Ronen Levy, Eilon Barnea, Arie Admon, David Dimmock, Noam Stern-Ginossar, Avigdor Scherz, Sandesh C S Nagamani, Miguel Unda, David M Wilson rd, Ronit Elhasid, Arkaitz Carracedo, Yardena Samuels, Sridhar Hannenhalli, Eytan Ru. Cell. 2018 September;174:1559-1570.e22. [Full Text Article] [PubMed:30100185] [PMC:PMC6225773] Related Antibodies: LS-C31865.

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The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).

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