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Carbonic Anhydrase VIII (None)
- Target
- None
- Molecular classification
- Enzyme, Carbonic Anhydrase family, Acatalytic Carbonic Anhydrase
01
Overview
Carbonic Anhydrase 8 (CA8) is a member of the carbonic anhydrase family, but it lacks the typical enzymatic activity due to a key amino acid substitution. Instead, CA8 functions as an allosteric inhibitor of the inositol trisphosphate receptor type 1 (ITPR1), playing a crucial role in regulating intracellular calcium release, particularly in neurons. Mutations in CA8 are associated with neurological disorders characterized by cerebellar ataxia, mental retardation, and dysequilibrium. Overexpression or gene therapy with wildtype CA8 shows promise in correcting pain hypersensitivity by restoring normal calcium signaling via ITPR1 inhibition.
- Other names
- CA8CA-VIIICALCALSCAMRQ3CARPCA-RPCarbonic anhydrase-related protein VIII
02
Mechanism of action
Allosteric inhibition of ITPR1
03
Biological functions
Regulation of intracellular calcium releaseAllosteric inhibition of ITPR1Neuronal calcium signalingCalcium homeostasis
04
Disease associations
Cerebellar ataxia with mental retardation and dysequilibrium syndrome type 3 (CAMRQ3)Spinocerebellar Ataxia Autosomal Recessive Type 34Neurological disordersChronic pain
05
Safety considerations
Potential for off-target effects when modulating calcium signalingNeed for precise targeting to avoid disrupting normal calcium homeostasis
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