EVC (gene)
| Ellis van Creveld syndrome | |||||||
|---|---|---|---|---|---|---|---|
 EVC gene and its neighbors on chromosome 4p16 | |||||||
| Identifiers | |||||||
| Symbol | EVC | ||||||
| NCBI gene | 2121 | ||||||
| HGNC | 3497 | ||||||
| OMIM | 604831 | ||||||
| RefSeq | NM_153717 | ||||||
| UniProt | P57679 | ||||||
| Other data | |||||||
| Locus | Chr. 4 p16 | ||||||
| |||||||
EVC is a gene associated with Ellis-van Creveld syndrome. It overlaps with the CRMP1 gene.[1]
EVC is one of two genes (the other being EVC2) that upon mutation give rise to EvC (Ellis-van Creveld) syndrome in humans and is found to act as a positive mediator for three hedgehog (Hh) signaling molecules.[2] Mice with an inactivation of the EVC gene (EVC −/−) were found to exhibit similar physical characteristics as humans, such as shortened limbs and dental impairments.[2] In a study of 65 individuals affected with EvC, mutations in the EVC gene were found in 20 of them, and primarily attributed to a frameshift resulting in a nonsense codon.[3] More mild physical characteristics not completely associated with EvC syndrome, such as those without the expected oral deformities can also be attributed to EVC gene mutations.[4]
See also
References
- ^ Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J (March 2000). "Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis". Nature Genetics. 24 (3): 283–6. doi:10.1038/73508. PMID 10700184. S2CID 1391136.
- ^ a b Ruiz-Perez VL, Blair HJ, Rodriguez-Andres ME, Blanco MJ, Wilson A, Liu YN, Miles C, Peters H, Goodship JA (August 2007). "Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia". Development. 134 (16): 2903–12. doi:10.1242/dev.007542. PMID 17660199.
- ^ Tompson SW, Ruiz-Perez VL, Blair HJ, Barton S, Navarro V, Robson JL, Wright MJ, Goodship JA (January 2007). "Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients". Human Genetics. 120 (5): 663–70. doi:10.1007/s00439-006-0237-7. PMID 17024374. S2CID 28520012.
- ^ Ulucan H, Gül D, Sapp JC, Cockerham J, Johnston JJ, Biesecker LG (October 2008). "Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene". BMC Medical Genetics. 9 (1): 92. doi:10.1186/1471-2350-9-92. PMC 2584628. PMID 18947413.
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External links
- EVC+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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