||ORF Nucleotide Sequence (Length: 1065bp)
||pcDNA3.1-C-(k)DYK or customized vector
|Tag on pcDNA3.1-C-(k)DYK
||C terminal DYKDDDDK tags
|ORF Insert Method
||CloneEZ® Seamless cloning technology
||Homo sapiens (human)
||ornithine carbamoyltransferase, mitochondrial precursor
||REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BC107153.1, AK292757.1 and
This sequence is a reference standard in the RefSeqGene project.
On Aug 21, 2008 this sequence version replaced gi:156631003.
Summary: 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.
[provided by RefSeq, Jul 2008].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
gene product(s) localized to mito. :: reported by MitoCarta
Transcript exon combination :: BC107153.1, K02100.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
COMPLETENESS: complete on the 3' end.