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Normal Function
The UNC80 gene provides instructions for making a large protein that is important in the functioning of a sodium channel called NALCN. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and transmit electrical signals. The UNC80 protein forms a bridge between NALCN and another protein called UNC79; along with several other molecules, these proteins group together to form a functional NALCN channel complex (channelosome). UNC80 also helps locate and stabilize the NALCN channelosome in the cell membrane of nerve cells (neurons). The channelosome helps regulate the activity level (excitability) of these cells.
Health Conditions Related to Genetic Changes
UNC80 deficiency
At least 10 UNC80 gene mutations have been identified in people with UNC80 deficiency, a disorder that causes severe nervous system and developmental problems that are apparent from birth or early infancy. The mutations that occur in people with this disorder result in absence of the UNC80 protein or production of an abnormal protein. Absence of functional UNC80 protein impairs the stability and function of the NALCN channelosome. Neuron excitability is thought to be improperly regulated as a result, but it is unclear how these changes cause the specific features of UNC80 deficiency.
More About This Health ConditionOther Names for This Gene
- C2orf21
- FLJ33496
- KIAA1843
- protein unc-80 homolog isoform 1
- protein unc-80 homolog isoform 2
- UNC-80
- unc-80 homolog, NALCN activator
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Cochet-Bissuel M, Lory P, Monteil A. The sodium leak channel, NALCN, in health and disease. Front Cell Neurosci. 2014 May 20;8:132. doi: 10.3389/fncel.2014.00132. eCollection 2014. Citation on PubMed or Free article on PubMed Central
- Perez Y, Kadir R, Volodarsky M, Noyman I, Flusser H, Shorer Z, Gradstein L, Birnbaum RY, Birk OS. UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN. J Med Genet. 2016 Jun;53(6):397-402. doi: 10.1136/jmedgenet-2015-103352. Epub 2015 Nov 6. Citation on PubMed
- Shamseldin HE, Faqeih E, Alasmari A, Zaki MS, Gleeson JG, Alkuraya FS. Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. Am J Hum Genet. 2016 Jan 7;98(1):210-5. doi: 10.1016/j.ajhg.2015.11.013. Epub 2015 Dec 17. Citation on PubMed or Free article on PubMed Central
- Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K, Ahmed S, Alders M, Gerstner T, Aslaksen K, Tetreault M, Qin W, Hartley T, Jhangiani SN, Muzny DM, Tarailo-Graovac M, van Karnebeek CD; Care4Rare Canada Consortium; Baylor-Hopkins Center for Mendelian Genomics; Lupski JR, Ren D, Yoon G. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet. 2016 Jan 7;98(1):202-9. doi: 10.1016/j.ajhg.2015.11.004. Epub 2015 Dec 17. Citation on PubMed or Free article on PubMed Central
- Valkanas E, Schaffer K, Dunham C, Maduro V, du Souich C, Rupps R, Adams DR, Baradaran-Heravi A, Flynn E, Malicdan MC, Gahl WA, Toro C, Boerkoel CF. Phenotypic evolution of UNC80 loss of function. Am J Med Genet A. 2016 Dec;170(12):3106-3114. doi: 10.1002/ajmg.a.37929. Epub 2016 Aug 11. Citation on PubMed
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