CA5A
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CA5A (HGNC:1377) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
carbonic anhydrase 5A
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CA5
Alias symbols
CAV, CAVA
%HI
88.4(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.26(Read more about gnomAD LOEUF score)
Cytoband
16q24.2
Genomic Coordinates
GRCh37/hg19: chr16:87915155-87970135 NCBI Ensembl UCSC
GRCh38/hg38: chr16:87881549-87936529 NCBI Ensembl UCSC
MANE Select Transcript
NM_001739.2 ENST00000649794.3 (Read more about MANE Select)
Function
Mitochondrial carbonic anhydrase that catalyzes the reversible conversion of carbon dioxide to bicarbonate/HCO3 (PubMed:8356065, PubMed:24530203). Mitochondria are impermeable to HCO3, and thus this intramitochondrial carbonic anhydrase is pivotal in providing HCO3 for multiple mitochondrial enzymes that catalyze the formation of essential metabolites of intermediary metabolism in the urea and Krebs cycles (PubMed:24530203). {ECO:0000269|PubMed:24530203, ECO:0000269|PubMed:8356065}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-5658
ClinGen Curation ID:
CCID:006772
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
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:
  • hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)