OTC
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
OTC (HGNC:8512) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ornithine transcarbamylase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
OTCase, OTCD, OTC1
%HI
3.31(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.87(Read more about gnomAD pLI score)
LOEUF
0.41(Read more about gnomAD LOEUF score)
Cytoband
Xp11.4
Genomic Coordinates
GRCh37/hg19: chrX:38211857-38280699 NCBI Ensembl UCSC
GRCh38/hg38: chrX:38327684-38422928 NCBI Ensembl UCSC
MANE Select Transcript
NM_000531.6 ENST00000039007.5 (Read more about MANE Select)
Function
Catalyzes the second step of the urea cycle, the condensation of carbamoyl phosphate with L-ornithine to form L-citrulline (PubMed:6372096, PubMed:8112735, PubMed:2556444). The urea cycle ensures the detoxification of ammonia by converting it to urea for excretion (PubMed:2556444). {ECO:0000269|PubMed:2556444, ECO:0000269|PubMed:6372096, ECO:0000269|PubMed:8112735}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33769
ClinGen Curation ID:
CCID:007600
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
06/28/2012

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • ornithine carbamoyltransferase deficiency Monarch
HI Evidence Comments:
Loss of function mutations result in OTC deficiency, a common type of urea cycle disorder. Males are always affected and 15% of carrier females will have hyperammonemia at some point in their lifetimes and may have cognitive symptoms even in the absence of hyperammonemia. See GeneReviews for Urea Cycle Disorders.
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
There have been no reports of focal duplications of OTC.
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)