OTC

GENE INFORMATION

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Gene name

OTC

Synonyms

Description

ornithine carbamoyltransferase (HGNC Symbol)

Entrez gene 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]

Chromosome

X (Chromosome progress)

Cytoband

p11.4

Chromosome location (bp)

38211798 - 38280703

Ensembl

ENSG00000036473 (version 73.37)

Entrez gene

5009

UniProt

P00480 (UniProt - Evidence at protein level)

neXtProt

NX_P00480

Antibodypedia

OTC antibodies
 

PROTEIN VIEW

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OTC-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

OTC-001 ENSP00000039007
ENST00000039007
P00480
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