Biomarkers
Carbonic Anhydrase IV
Recombinant ID:
3204
Gene of Interest
Gene Synonyms:
CA4
Protein Names:
Carbonic anhydrase 4 (EC 4.2.1.1) (Carbonate dehydratase IV) (Carbonic anhydrase IV) (CA-IV)
Accession Data
Organism:
Homo sapiens (Human)
Mass (kDa):
35032
Length (aa):
312
Metal Binding:
METAL 115 115 Zinc; catalytic. {ECO:0000269|PubMed:8942978}.; METAL 117 117 Zinc; catalytic. {ECO:0000269|PubMed:8942978}.; METAL 140 140 Zinc; catalytic. {ECO:0000269|PubMed:8942978}.
Proteomics (Proteome ID):
Carbonic anhydrase 4 (EC 4.2.1.1) (Carbonate dehydratase IV) (Carbonic anhydrase IV) (CA-IV)
Proteomics (Chromosome):
UP000005640
Disease:
Retinitis pigmentosa 17 (RP17) [MIM:600852]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:15563508, ECO:0000269|PubMed:17652713, ECO:0000269|PubMed:20450258}. Note=The disease is caused by mutations affecting the gene represented in this entry. Defective acid overload removal from retina and retinal epithelium, due to mutant CA4, is responsible for photoreceptor degeneration, indicating that impaired pH homeostasis is the most likely cause underlying the RP17 phenotype.
Mutagenesis:
MUTAGEN 284 284 S->F: Loss of C-terminal domain removal and inactivation. {ECO:0000269|PubMed:7625839}.
Sequence:
MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTKAKVDKKLGRFFFSGYDKKQTWTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPEDEIAVLAFLVEAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRHYFRYLGSLTTPTCDEKVVWTVFREPIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALPALLGPMLACLLAGFLR
Function [CC]:
Reversible hydration of carbon dioxide. May stimulate the sodium/bicarbonate transporter activity of SLC4A4 that acts in pH homeostasis. It is essential for acid overload removal from the retina and retina epithelium, and acid release in the choriocapillaris in the choroid. {ECO:0000269|PubMed:15563508}.
Analysis Summary:
Active site (1); Alternative sequence (2); Beta strand (16); Chain (1); Disulfide bond (2); Domain (1); Helix (10); Lipidation (1); Metal binding (3); Mutagenesis (1); Natural variant (6); Propeptide (1); Region (1); Sequence conflict (1); Signal peptide (1); Turn (2); Expressed in the endothelium of the choriocapillaris in eyes (at protein level). Not expressed in the retinal epithelium at detectable levels. {ECO:0000269|PubMed:15563508}.
Reagent Data
Name:
Carbonic anhydrase 4 (EC 4.2.1.1) (Carbonate dehydratase IV) (Carbonic anhydrase IV) (CA-IV)
Subcategory:
Recombinant
Source:
HEK293
Species:
Format:
Lyophilized
pH:
7.4-7.5
Formulation:
Sterile-filtered colorless solution
Formulation Concentration:
1mg/ml
Buffer Volume:
Standard
Buffer Solution:
PBS
Metal Chelating Agents
Determined:
SDS-PAGE
Purity:
> 98%
Validated:
RP-HPLC
Sample Handling
Storage:
-20°C
Stability:
This bioreagent is stable at 4°C (short-term) and -70°C(long-term). After reconstitution, sample may be stored at 4°C for 2-7 days and below -18°C for future use.
Preparation:
Reconstitute in sterile distilled H2O to no less than 100ug/ml; dilute reconstituted stock further in other aqueous solutions if needed. Please review COA for lot-specific instructions. Final measurements should be determined by the end-user for optimal performance.
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