This is a rare autosomal recessive zinc deficiency, causing acrodermatitis enteropathica. It is assumed that no one has it passed infancy. I am adult. My 23andme result shows T;C. According to the graph, this must be the risk genotype? How do I know if I am just a carrier, or actually am affected by the mutation myself? (Aside from the fact that I frequently have zinc deficiency, and a mild version of AE when low in zinc)?
According to the HapMap graph (C;C) is the most common genotype and you are definitely a carrier. The good news is that is is 11.5% of all caucasians are also carriers, so while it might be a harmful mutation, you are certainly not alone. It may well contribute to the zinc deficiency you report. --- cariaso 01:29, 24 August 2012 (UTC)
Thank you. Just to confirm I understood correctly, this is the case where one allele is the wild type (C) and the other is the mutation (T), which leaves me and 11,5% of all caucasians with one functioning allele.
- "one allele is the wild type (C) and the other is the mutation (T), which leaves me and 11,5% of all caucasians"
- "with one functioning allele"
- Probably, but not certain. T could be reduced function. T could be some alternative function. T could be better than normal function. And it could be absolutely equivalent function. Defects in this gene cause acrodermatitis enteropathica, but it doesn't meant this change necessarily causes that effect. --- cariaso 10:40, 24 August 2012 (UTC)