EVC2 wt Allele

Preferred Label : EVC2 wt Allele;

NCIt synonyms : LBN; WAD; EvC Ciliary Complex Subunit 1 wt Allele; EvC Ciliary Complex Subunit 2 wt Allele; Ellis Van Creveld Syndrome 2 Gene;

NCIt definition : Human EVC2 wild-type allele is located in the vicinity of 4p16.2 and is approximately 181 kb in length. This allele, which encodes limbin protein, plays a role in the ciliary 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);

GenBank Accession Number : AB083067;

Details

Origin ID

C201109;

OMIM relation
- Evc ciliary complex subunit 2 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Hedgehog Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Bone Formation Stimulation [NCIt concept]
- Embryogenesis [NCIt concept]
- Myogenesis [NCIt concept]
- Signal Transduction [NCIt concept]
- Skeletal Development [NCIt concept]

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