||ORF Nucleotide Sequence (Length: 906bp)
||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)
||mitochondrial ornithine transporter 1
||REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DB505424.1, BI461478.1,
BC002702.2, BU726339.1, AL161614.16 and AA948095.1.
This sequence is a reference standard in the RefSeqGene project.
On May 15, 2009 this sequence version replaced gi:88703039.
Summary: This gene is a member of the mitochondrial carrier family.
The encoded protein transports ornithine across the inner
mitochondrial membrane from the cytosol to the mitochondrial
matrix. The protein is an essential component of the urea cycle,
and functions in ammonium detoxification and biosynthesis of the
amino acid arginine. Mutations in this gene result in
hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
There is a pseudogene of this locus on the Y chromosome.[provided
by RefSeq, May 2009].
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
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 :: AF112968.1, AF177333.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
COMPLETENESS: complete on the 3' end.