Tchem OTC Ornithine carbamoyltransferase, mitochondrial

Protein Summary

Description

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]

Uniprot Accession IDs

• P00480
• A8K9P2
• D3DWB0
• Q3KNR1
• Q6B0I1
• Q9NYJ5

Gene Name

• OTC

Ensembl ID

• ENST00000039007
• ENSP00000039007
• ENSG00000036473

Symbol

• OCTD

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	0.78
gene perturbation	0.76
cellular component	0.66
virus perturbation	0.64
cell line	0.58

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 181.64   (req: < 5)

Gene RIFs: 48   (req: <= 3)

Antibodies: 598   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 181.64   (req: >= 5)

Gene RIFs: 48   (req: > 3)

Antibodies: 598   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 16

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 1

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0