CA6
Homo sapiens
Gene Name: carbonic anhydrase VI
Aliases: CA-VI; GUSTIN; MGC21256
Chromosome No: 1
Chromosome Band: 1p36.23
Genetic Category: Rare Single Gene variant
Aliases: CA-VI; GUSTIN; MGC21256
Chromosome No: 1
Chromosome Band: 1p36.23
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 14
Evidence score: 0
ASD Reports: 7
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 14
Evidence score: 0
| Associated Disorders: |
|
Relevance to Autism
Rare variants in the CA6 gene have been identified with autism (Bucan et al., 2009).
Molecular Function
The protein encoded by this gene is one of several isozymes of carbonic anhydrase.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
ASD
Highly Cited
Sequence of bovine carbonic anhydrase VI: potential recognition sites for N-acetylgalactosaminyltransferase.
Highly Cited
Gustin concentration changes relative to salivary zinc and taste in humans.
Highly Cited
Decreased parotid saliva gustin/carbonic anhydrase VI secretion: an enzyme disorder manifested by gustatory and olfactory dysfunction.
Recent Recommendation
cAMP and cGMP in human parotid saliva: relationships to taste and smell dysfunction, gender, and age.
