CA8 Chromosome 8
Carbonic anhydrase 8 (inactive)
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What This Gene Does
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. Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
Carbonic anhydrases
Locus Type
gene with protein product
Location
8q12.1
Ensembl
ENSG00000178538
Associated Conditions (3)
Cerebellar ataxia
intellectual disability
and dysequilibrium syndrome 3
Key Variants
RS1563390893
Likely pathogenic
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
Health Risk
RS1807291595
Likely pathogenic
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
Health Risk
RS79267946
Likely pathogenic
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
Health Risk
RS267606695
Pathogenic
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
Health Risk
RS387906598
Pathogenic
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1563390893 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 |
| RS1807291595 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 |
| RS79267946 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 |
| RS267606695 | Health Risk | Pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 |
| RS387906598 | Health Risk | Pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 |