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The official name of this gene is “family with sequence similarity 126, member A.”
FAM126A is the gene's official symbol. The FAM126A gene is also known by other names, listed below.
The FAM126A gene provides instructions for making a protein called hyccin, which is active (expressed) throughout the nervous system. Researchers believe that hyccin is involved in the formation of myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. Hyccin is also active in the lens of the eye, the heart, and the kidneys; however, the protein's function in these tissues is unclear.
At least four mutations in the FAM126A gene have been found to cause hypomyelination and congenital cataract. Most mutations delete a large portion of the gene or create a premature stop signal in the instructions for making hyccin. These mutations prevent the production of any functional protein. One FAM126A gene mutation allows some protein to be produced. This mutation replaces the protein building block (amino acid) leucine with the amino acid proline at position 53 in the hyccin protein (written as Leu53Pro or L53P). People with the Leu53Pro mutation tend to have milder symptoms than those with mutations that prevent the production of any protein.
Any disruption in the production of hyccin impairs its role in the formation of myelin, leading to neurological problems such as intellectual disability and walking difficulties. It is unclear how a lack of hyccin causes a clouding of the lens (cataract) in both eyes that is typically present from birth in affected individuals. The neurological problems and cataracts are the characteristic features seen in people with hypomyelination and congenital cataract.
Cytogenetic Location: 7p15.3
Molecular Location on chromosome 7: base pairs 22,941,258 to 23,014,194
The FAM126A gene is located on the short (p) arm of chromosome 7 at position 15.3.
More precisely, the FAM126A gene is located from base pair 22,941,258 to base pair 23,014,194 on chromosome 7.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about FAM126A helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
amino acid ; cataract ; congenital ; disability ; expressed ; gene ; leucine ; mutation ; nervous system ; neurological ; proline ; protein
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.