Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: QYESKLEPLP FTSADGVNED LSLNDQMIDI LSSEDPGSML QALEELEIAT LNRADADLEA CRTQISKDII ALLLKNLTSS GHLSPQV
Highest antigen sequence identity to the following orthologs: Mouse - 79%, Rat - 78%.
This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Ellis van Creveld syndrome 2; Ellis-van Creveld syndrome protein 2; EVC2; Limbin
Gene Aliases: EVC2; LBN; WAD
UniProt ID: (Human) Q86UK5
Entrez Gene ID: (Human) 132884
If an Invitrogen™ antibody doesn't perform as described on our website or datasheet,we'll replace the product at no cost to you, or provide you with a credit for a future purchase.*
Learn moreGet expert recommendations for common problems or connect directly with an on staff expert for technical assistance related to applications, equipment and general product use.
Contact tech support