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MGP002176

Record overview

MGPD IDMGP002176
Gene ID5009
SpeciesHomo sapiens (Human)
Gene Nameornithine carbamoyltransferase
Gene Symbol OTC
SynonymsOCTD;
Alternate namesornithine carbamoyltransferase, mitochondrial; OTCase; ornithine transcarbamylase;
ChromosomeX
Map LocationXp21.1
EC Number2.1.3.3
SummaryThis 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]
OrthologsView orthologs and multiple alignments for OTC

Proteins

ornithine carbamoyltransferase, mitochondrial precursor
Refseq ID:NP_000522
Protein GI:38788445
UniProt ID:P00480
mRNA ID:NM_000531
Length:354
RefSeq Status:
MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKNFTGEEIKYMLWLSADLKFRIKQKGEYLPLLQGKSLGMIFEKRSTRTRLSTETG
FALLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPIINGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNI
LHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKENGTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTF
LHCLPRKPEEVDDEVFYSPRSLVFPEAENRKWTIMAVMVSLLTDYSPQLQKPKF
 
transit_peptide: 1..32
calculated_mol_wt: 3807
peptide sequence: 
MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQ

mat_peptide: 33..354
product: ornithine carbamoyltransferase, mitochondrial
calculated_mol_wt: 36147
peptide sequence: 
NKVQLKGRDLLTLKNFTGEEIKYMLWLSADLKFRIKQKGEYLPLLQGKSLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNESLTDTARVLS
SMADAVLARVYKQSDLDTLAKEASIPIINGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKL
AEQYAKENGTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPRSLVFPEAENRKW
TIMAVMVSLLTDYSPQLQKPKF
 
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