" /> EVC wt Allele - CISMeF





Preferred Label : EVC wt Allele;

NCIt synonyms : Ellis Van Creveld Syndrome Gene; DWF-1; EVCL; EvC Ciliary Complex Subunit 1 wt Allele; EVC1; Ellis Van Creveld Protein Gene;

NCIt definition : Human EVC wild-type allele is located in the vicinity of 4p16.2 and is approximately 118 kb in length. This allele, which encodes EvC complex member EVC protein, is involved in mediating signal transduction between ciliary proteins and the hedgehog signaling pathway. Mutations in the gene are associated with both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis.;

NCIt note : The human EVC and EVC2 genes are arranged in a head-to-head configuration with transcription start sites separated by approximately 2.6 kb. (OMIM);

NCI Metathesaurus CUI : CL1915474;

GenBank Accession Number : AF216184;

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04/05/2025


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