CA8
Function
Does not have a carbonic anhydrase catalytic activity.
Involvement in disease
Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3
CAMRQ3
An autosomal recessive, congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the alpha-carbonic anhydrase family.
Alternative names
CALS, CA8, Carbonic anhydrase-related protein, CARP, Carbonic anhydrase VIII, CA-VIII