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Rabbit Anti-CA8/FITC Conjugated antibody
background:
The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form.
Function:
Does not have a carbonic anhydrase catalytic activity.
DISEASE:
Defects in CA8 are the cause of cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227]. CMARQ3 is a congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mild mental retardation.
Similarity:
Belongs to the alpha-carbonic anhydrase family.
Database links:
Entrez Gene: 515918 Cow
Entrez Gene: 767 Human
Entrez Gene: 12319 Mouse
Entrez Gene: 297814 Rat
Omim: 114815 Human
SwissProt: P35219 Human
SwissProt: P28651 Mouse
SwissProt: Q5PPN4 Rat
Unigene: 654388 Human
Unigene: 11964 Mouse
Unigene: 22066 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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