ornithine transcarbamylase, mitochondrial precursor [Homo sapiens]

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Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation. [Hematology. 2023]
Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation.
Tsykunova G, Kristensen E, Stray-Pedersen A, Bruserud Ø, Sørensen IW, Bruserud Ø, Tvedt THA. Hematology. 2023 Dec; 28(1):2265187. Epub 2023 Oct 5.
The functional impact of 1,570 individual amino acid substitutions in human OTC. [Am J Hum Genet. 2023]
The functional impact of 1,570 individual amino acid substitutions in human OTC.
Lo RS, Cromie GA, Tang M, Teng K, Owens K, Sirr A, Kutz JN, Morizono H, Caldovic L, Ah Mew N, et al. Am J Hum Genet. 2023 May 4; 110(5):863-879.
[Analysis of OTC gene variants in four children with delayed onset Ornithine transcarbamylase deficiency]. [Zhonghua Yi Xue Yi Chuan Xue Z...]
[Analysis of OTC gene variants in four children with delayed onset Ornithine transcarbamylase deficiency].
Xie L, Wang Y, Ma W, Fan X, Pang L, Wei E, Wang H. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Mar 10; 40(3):328-331.

RefSeq genomic sequence
See the genomic reference sequence for the OTC gene (NG_008471.1).
RefSeq mRNA
See reference mRNA sequence for the OTC gene (NM_000531.6).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the OTC gene.

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NP_000522 [Domain Mapping of Disease Mut...]
NP_000522
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
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Find Quality Antibodies [GeneTex Inc]
Find Quality Antibodies
GeneTex Inc
Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

Mus musculus ER membrane protein complex subunit 10 (Emc10), transcript variant ...
Mus musculus ER membrane protein complex subunit 10 (Emc10), transcript variant 2, mRNA
gi|1240296471|ref|NM_001355107.1|

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