CA5A Gene (Protein Coding)

Carbonic Anhydrase 5A

GC16M087882
GIFtS:
43
Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue... See more...

Aliases for CA5A Gene

Aliases for CA5A Gene

  • Carbonic Anhydrase 5A 2 3 5
  • Carbonic Anhydrase VA, Mitochondrial 2 3
  • Carbonic Anhydrase 5A, Mitochondrial 3 4
  • Carbonate Dehydratase VA 3 4
  • EC 4.2.1.1 4 51
  • CA-VA 3 4
  • CAVA 2 3
  • CA5 3 4
  • CAV 2 3
  • Carbonic Anhydrase V, Mitochondrial 3
  • Carbonic Anhydrase VA 4
  • Carbonic Dehydratase 3
  • GS1-21A4.1 3
  • CA5AD 3
  • CA5A 5

External Ids for CA5A Gene

Previous HGNC Symbols for CA5A Gene

  • CA5

Previous GeneCards Identifiers for CA5A Gene

  • GC16P028774
  • GC16M088952
  • GC16M087662
  • GC16M087703
  • GC16M086479
  • GC16M087921
  • GC16M073662

Summaries for CA5A Gene

Entrez Gene Summary for CA5A Gene

  • Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008]

GeneCards Summary for CA5A Gene

CA5A (Carbonic Anhydrase 5A) is a Protein Coding gene. Diseases associated with CA5A include Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To and Carbonic Anhydrase Va Deficiency. Among its related pathways are Metabolism and Nitrogen metabolism. Gene Ontology (GO) annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA5B.

UniProtKB/Swiss-Prot Summary for CA5A Gene

Additional gene information for CA5A Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CA5A Gene

Genomics for CA5A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CA5A Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16J087936 Promoter 1.1 EPDnew 600.7 +0.0 31 0.1 HNRNPL GATAD2A TFE3 NFKBIZ RCOR2 RBFOX2 RXRB IRF2 BRD4 SP1 CA5A lnc-CA5A-6 piR-47100-002 SLC7A5
GH16J087935 Enhancer 0.7 Ensembl 600.7 +1.3 1279 0.2 HNRNPL NFKBIZ RXRB IRF2 KMT2B ZBTB26 ZKSCAN8 ZBTB25 TEAD1 SAP130 CA5A lnc-CA5A-6 piR-47100-002 piR-41645-002 SLC7A5
GH16J087787 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 16.8 +146.5 146495 5 RNF2 HNRNPL CREB1 GATAD2A ATF7 PRDM10 REST TFE3 NFKBIZ RCOR2 CA5A BANP FBXO31 CTU2 KLHDC4 ENSG00000260498 ENSG00000260177 LOC107987237
GH16J087865 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.3 +67.7 67698 9.8 RNF2 HNRNPL CREB1 GATAD2A CTCF ZBTB33 ATF7 TEAD4 TFE3 ZNF512 SLC7A5 ZC3H18 BANP ZCCHC14 KLHDC4 CTU2 TRAPPC2L CA5A MAP1LC3B FBXO31
GH16J087895 Enhancer 0.9 FANTOM5 ENCODE 21.4 +39.8 39760 3.2 SP1 BACH1 RELA IKZF2 TRIM22 PKNOX1 DPF2 RELB RUNX3 GATAD2B CA5A BANP PIEZO1 KLHDC4 lnc-SLC7A5-1 piR-50335-002 SLC7A5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CA5A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CA5A

Top Transcription factor binding sites by QIAGEN in the CA5A gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • p53

Genomic Locations for CA5A Gene

Genomic Locations for CA5A Gene
chr16:87,881,546-87,936,580
(GRCh38/hg38)
Size:
55,035 bases
Orientation:
Minus strand
chr16:87,921,625-87,970,135
(GRCh37/hg19)
Size:
48,511 bases
Orientation:
Minus strand

Genomic View for CA5A Gene

Genes around CA5A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CA5A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CA5A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CA5A Gene

Proteins for CA5A Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CA5A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35218-CAH5A_HUMAN
    Recommended name:
    Carbonic anhydrase 5A, mitochondrial
    Protein Accession:
    P35218
    Secondary Accessions:
    • B2RPF2

    Protein attributes for CA5A Gene

    Size:
    305 amino acids
    Molecular mass:
    34750 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

neXtProt entry for CA5A Gene

Protein Expression for CA5A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CA5A Gene

P35218:
  • FDPSTLLP
  • AELHLVH
  • GSLTTPPL
  • ELHLVHWN
  • QFHFHWG

Post-translational modifications for CA5A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CA5A Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CA5A Gene

Gene Families for CA5A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CA5A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CA5A Gene

GenScript: Design optimal peptide antigens:
  • Carbonic anhydrase VA (CAH5A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P35218

UniProtKB/Swiss-Prot:

CAH5A_HUMAN :
  • Belongs to the alpha-carbonic anhydrase family.
Family:
  • Belongs to the alpha-carbonic anhydrase family.
genes like me logo Genes that share domains with CA5A: view

Function for CA5A Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CA5A Gene

UniProtKB/Swiss-Prot Function:
Reversible hydration of carbon dioxide. Low activity.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + hydrogencarbonate = CO2 + H2O; Xref=Rhea:RHEA:10748, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:17544; EC=4.2.1.1;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=10.0 mM for CO(2) {ECO:0000269|PubMed:18618712};
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by histamine, L-adrenaline, L- and D-histidine, and L- and D-phenylalanine. Inhibited by coumarins, sulfonamide derivatives such as acetazolamide and Foscarnet (phosphonoformate trisodium salt).

Enzyme Numbers (IUBMB) for CA5A Gene

Phenotypes From GWAS Catalog for CA5A Gene

Gene Ontology (GO) - Molecular Function for CA5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004089 carbonate dehydratase activity IEA,IBA 21873635
GO:0008270 zinc ion binding IEA --
GO:0016829 lyase activity IEA --
GO:0016836 hydro-lyase activity IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CA5A: view
genes like me logo Genes that share phenotypes with CA5A: view

Human Phenotype Ontology for CA5A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CA5A Gene

MGI Knock Outs for CA5A:

Animal Model Products

CRISPR Products

miRNA for CA5A Gene

miRTarBase miRNAs that target CA5A

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CA5A

No data available for Transcription Factor Targets and HOMER Transcription for CA5A Gene

Localization for CA5A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CA5A Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CA5A gene
Compartment Confidence
mitochondrion 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CA5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion TAS,IBA 21873635
GO:0005759 mitochondrial matrix NAS,TAS --
genes like me logo Genes that share ontologies with CA5A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CA5A Gene

Pathways & Interactions for CA5A Gene

PathCards logo

SuperPathways for CA5A Gene

genes like me logo Genes that share pathways with CA5A: view

Pathways by source for CA5A Gene

2 Reactome pathways for CA5A Gene
2 KEGG pathways for CA5A Gene

Interacting Proteins for CA5A Gene

Selected Interacting proteins: P35218-CAH5A_HUMAN for CA5A Gene via IID

GPS-Prot Interaction Network for CA5A

Gene Ontology (GO) - Biological Process for CA5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006730 one-carbon metabolic process IBA 21873635
GO:0015701 bicarbonate transport TAS --
genes like me logo Genes that share ontologies with CA5A: view

No data available for SIGNOR curated interactions for CA5A Gene

Drugs & Compounds for CA5A Gene

Products:

  1. Drug

(18) Drugs for CA5A Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Brinzolamide Approved Pharma Target, inhibitor CA II inhibitor 68
Zonisamide Approved, Investigational Pharma Target, inhibitor Antiepileptic with anticonvulsant and mechanistic effect 74
Benzthiazide Approved Pharma Target, inhibitor 0
Cyclothiazide Approved Pharma Allosteric regulator, Positive, Target, inhibitor 0
Chlorothiazide Approved, Vet_approved Pharma Inhibitor, Inhibition Carbonic anhydrase inhibitor 10

(3) Additional Compounds for CA5A Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Carbonic acid
  • [co(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Carbonate
 71-52-3, 463-79-6

(7) ApexBio Compounds for CA5A Gene

Compound Action Cas Number
Brinzolamide CA II inhibitor 138890-62-7
Chlorothiazide Carbonic anhydrase inhibitor 58-94-6
Dichlorphenamide 120-97-8
Dorzolamide HCl Carbonic anhydrase inhibitor 130693-82-2
Methazolamide Carbonic anhydrase inhibitor 554-57-4
Topiramate GluR5 receptor antagonist,anticonvulsant 97240-79-4
U-104 CAIX inhibitor 178606-66-1
genes like me logo Genes that share compounds with CA5A: view

Drug Products

Transcripts for CA5A Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CA5A Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CA5A

Alternative Splicing Database (ASD) splice patterns (SP) for CA5A Gene

No ASD Table

Relevant External Links for CA5A Gene

GeneLoc Exon Structure for
CA5A

Expression for CA5A Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CA5A Gene

mRNA expression in normal human tissues for CA5A Gene
mRNA expression by BioGPS for CA5A GenemRNA expression by GTEx for CA5A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Liver (Hepatobiliary System)

mRNA differential expression in normal tissues according to GTEx for CA5A Gene

This gene is overexpressed in Liver (x46.9).

Protein differential expression in normal tissues from HIPED for CA5A Gene

This gene is overexpressed in Gallbladder (35.8), Liver (20.9), and Fetal Liver (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CA5A Gene



Protein tissue co-expression partners for CA5A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CA5A

SOURCE GeneReport for Unigene cluster for CA5A Gene:

Hs.177446

Evidence on tissue expression from TISSUES for CA5A Gene

  • Liver(4.6)
  • Blood(2.2)
  • Skin(2.2)
  • Bone(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CA5A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • diaphragm
  • heart
  • lung
Abdomen:
  • adrenal gland
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with CA5A: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CA5A Gene

Orthologs for CA5A Gene

This gene was present in the common ancestor of animals.

Orthologs for CA5A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CA5A 30 31
  • 99.02 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CA5A 30 31
  • 79.69 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CA5A 30 31
  • 78.95 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Car5a 30 17 31
  • 76.81 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Car5a 30
  • 75.7 (n)
Oppossum
(Monodelphis domestica)
 Mammalia CA5A 31
  • 68 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CA5A 31
  • 61 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves -- 31
  • 62 (a)
 OneToMany
Zebrafish
(Danio rerio)
 Actinopterygii ca5 31
  • 48 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta CAH1 31 32
  • 39 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea cah-4 30
  • 48.46 (n)
cah-3 32
  • 37 (a)
Species where no ortholog for CA5A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for CA5A Gene

ENSEMBL:
Gene Tree for CA5A (if available)
TreeFam:
Gene Tree for CA5A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CA5A: view image

Paralogs for CA5A Gene

Paralogs for CA5A Gene

(12) SIMAP similar genes for CA5A Gene using alignment to 1 proteins:

  • CAH5A_HUMAN

Pseudogenes.org Pseudogenes for CA5A Gene

genes like me logo Genes that share paralogs with CA5A: view

Variants for CA5A Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CA5A Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
679537 Likely Benign: not provided 87,891,853(-) G/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
716204 Likely Benign: not provided 87,926,830(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
717957 Likely Benign: Carbonic anhydrase VA deficiency, hyperammonemia due to 87,926,844(-) G/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
727736 Likely Benign: not provided 87,891,916(-) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
733272 Likely Benign: not provided 87,904,795(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CA5A Gene

Structural Variations from Database of Genomic Variants (DGV) for CA5A Gene

Variant ID Type Subtype PubMed ID
dgv36n68 CNV loss 17160897
esv24582 CNV gain 19812545
esv2657678 CNV deletion 23128226
esv2714939 CNV deletion 23290073
esv2758668 CNV loss 17122850
esv2761935 CNV loss 21179565
esv3582433 CNV loss 25503493
esv3639536 CNV loss 21293372
esv3892935 CNV loss 25118596
nsv1059786 CNV gain 25217958
nsv1062946 CNV gain 25217958
nsv1066924 CNV loss 25217958
nsv457616 CNV gain 19166990
nsv573536 CNV gain 21841781
nsv9471 CNV gain 18304495
nsv974841 CNV duplication 23825009
nsv974842 CNV duplication 23825009
nsv978174 CNV duplication 23825009
nsv984362 CNV duplication 23825009

Variation tolerance for CA5A Gene

Residual Variation Intolerance Score: 68.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.61; 31.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CA5A Gene

Human Gene Mutation Database (HGMD)
CA5A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CA5A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CA5A Gene

Disorders for CA5A Gene

MalaCards: The human disease database

(9) MalaCards diseases for CA5A Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
carbonic anhydrase va deficiency, hyperammonemia due to
  • ca5ad
carbonic anhydrase va deficiency
  • carbonic anhydrase va deficiency, hyperammonemia due to
sialolithiasis
  • salivary gland stone
epilepsy, idiopathic generalized 11
  • epilepsy, idiopathic generalized, susceptibility to, 11
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative
  • scid, t cell-negative, b cell-positive, nk cell-negative
- elite association - COSMIC cancer census association via MalaCards
Search CA5A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CAH5A_HUMAN
  • Hyperammonemia due to carbonic anhydrase VA deficiency (CA5AD) [MIM:615751]: An autosomal recessive inborn error of metabolism, clinically characterized by infantile hyperammonemic encephalopathy. Metabolic abnormalities include hypoglycemia, hyperlactatemia, metabolic acidosis and respiratory alkalosis. {ECO:0000269 PubMed:24530203}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CA5A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CA5A: view

No data available for Genatlas for CA5A Gene

Publications for CA5A Gene

  1. Genomic organization of the human gene (CA5) and pseudogene for mitochondrial carbonic anhydrase V and their localization to chromosomes 16q and 16p. (PMID: 7490083) Nagao Y … Sly WS (Genomics 1995) 2 3 4 23
  2. Human mitochondrial carbonic anhydrase: cDNA cloning, expression, subcellular localization, and mapping to chromosome 16. (PMID: 8356065) Nagao Y … Sly WS (Proceedings of the National Academy of Sciences of the United States of America 1993) 2 3 4
  3. Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. (PMID: 24530203) van Karnebeek CD … Stockler-Ipsiroglu S (American journal of human genetics 2014) 3 4
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  5. Cell-specific expression of mitochondrial carbonic anhydrase in the human and rat gastrointestinal tract. (PMID: 10082753) Saarnio J … Sly WS (The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 1999) 3 23

ExternalLinks

View latest publications for CA5A gene in Mastermind

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