PC
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PC (HGNC:8636) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
pyruvate carboxylase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PCB
%HI
23.85(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.06(Read more about gnomAD pLI score)
LOEUF
0.54(Read more about gnomAD LOEUF score)
Cytoband
11q13.2
Genomic Coordinates
GRCh37/hg19: chr11:66615891-66725854 NCBI Ensembl UCSC
GRCh38/hg38: chr11:66848420-66958383 NCBI Ensembl UCSC
MANE Select Transcript
NM_001040716.2 ENST00000393960.7 (Read more about MANE Select)
Function
Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second. Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose tissue, liver, brain) synthesis from pyruvate. {ECO:0000269|PubMed:9585002}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-4090
ClinGen Curation ID:
CCID:007622
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • pyruvate carboxylase deficiency disease Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)