• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


OTC ornithine carbamoyltransferase [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000531 Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 10

*Business Day

Related Services

Gene Symbol OTC
Entrez Gene ID 5009
Full Name ornithine carbamoyltransferase
Synonyms MGC129967, MGC129968, MGC138856, OCTD
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp21.1

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].
Disorder

MIM: 300461

Ornithine transcarbamylase deficiency, 311250 (3)

mRNA Protein Product Sequence Price Select
NM_000531, 197116380 NP_000522, 38788445 ornithine carbamoyltransferase, mitochondrial precursor ORF Sequence $269.00
KEGG
hsa_M00029Urea cycle
hsa00330Arginine and proline metabolism
WikiPathways
WP497Urea cycle and metabolism of amino groups
BIOCYC
HUMAN_PWY-4981proline biosynthesis II (from arginine)
HUMAN_ARGININE-SYN4-PWYarginine biosynthesis IV
META_ARGININE-SYN4-PWYarginine biosynthesis IV
HUMAN_PWY-5004superpathway of citrulline metabolism
HUMAN_CITRULBIO-PWYcitrulline biosynthesis
HUMAN_CITRULLINE-DEG-PWYcitrulline degradation
META_PWY-5004superpathway of citrulline metabolism
META_CITRULBIO-PWYcitrulline biosynthesis
HUMAN_PWY-4984urea cycle
META_PWY-4984urea cycle
Reactome
REACT_111217Metabolism
REACT_13Metabolism of amino acids and derivatives
REACT_847Urea cycle
Homo sapiens (human)OTCNP_000522.3
Canis lupus familiaris (dog)OTCXP_537995.1
Bos taurus (cattle)OTCNP_803453.1
Mus musculus (house mouse)OtcNP_032795.1
Rattus norvegicus (Norway rat)OtcNP_037210.1
Gallus gallus (chicken)OTCNP_990241.1
Danio rerio (zebrafish)otcXP_001334671.1
Arabidopsis thaliana (thale cress)OTCNP_177667.1
GeneCards OTC
PDB 1OTH, 1C9Y, 1EP9, 1FVO
UniProt P00480
MIM 300461
Ensembl ENSG00000036473
HGNC 8512
HPRD 08947

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
ornithine carbamoyltransferase, mitochondrial
Names
ornithine carbamoyltransferase, mitochondrial
OTCase
ornithine transcarbamylase
NP_000522.3

Interactant



Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.

Learn more about the GenEZ ORF Cloning Service.