EVC is a gene associated with Ellis–Van Creveld syndrome. It overlaps with the CRMP1 gene. 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. 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. 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. More mild physical characteristics not completely associated with EvC syndrome, such as those without the expected oral deformities can also be attributed to EVC
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| - EVC is a gene associated with Ellis–Van Creveld syndrome. It overlaps with the CRMP1 gene. 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. 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. 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. More mild physical characteristics not completely associated with EvC syndrome, such as those without the expected oral deformities can also be attributed to EVC (en)
- EVC (англ. EvC ciliary complex subunit 1) – білок, який кодується однойменним геном, розташованим у людей на 4-й хромосомі. Довжина поліпептидного ланцюга білка становить 992 амінокислот, а молекулярна маса — 111 990. Послідовність амінокислот A: АланінC: ЦистеїнD: Аспарагінова кислотаE: Глутамінова кислотаF: ФенілаланінG: ГліцинH: ГістидинI: ІзолейцинK: ЛізинL: ЛейцинM: МетіонінN: АспарагінP: ПролінQ: ГлутамінR: АргінінS: СеринT: ТреонінV: ВалінW: Триптофан Y: Тирозин Локалізований у клітинній мембрані, цитоплазмі, цитоскелеті, мембрані, клітинних відростках, війках. (uk)
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| - Ellis van Creveld syndrome (en)
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| - Ellis van Creveld syndrome (en)
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| - EVC gene and its neighbors on chromosome 4p16 (en)
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| - EVC is a gene associated with Ellis–Van Creveld syndrome. It overlaps with the CRMP1 gene. 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. 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. 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. 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. (en)
- EVC (англ. EvC ciliary complex subunit 1) – білок, який кодується однойменним геном, розташованим у людей на 4-й хромосомі. Довжина поліпептидного ланцюга білка становить 992 амінокислот, а молекулярна маса — 111 990. Послідовність амінокислот A: АланінC: ЦистеїнD: Аспарагінова кислотаE: Глутамінова кислотаF: ФенілаланінG: ГліцинH: ГістидинI: ІзолейцинK: ЛізинL: ЛейцинM: МетіонінN: АспарагінP: ПролінQ: ГлутамінR: АргінінS: СеринT: ТреонінV: ВалінW: Триптофан Y: Тирозин Локалізований у клітинній мембрані, цитоплазмі, цитоскелеті, мембрані, клітинних відростках, війках. Функція гену малозрозуміла. Мутації в ньому призводять до виникнення синдрому Елліса — ван Кревельда. (uk)
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