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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Ellis van Creveld syndrome 2; Ellis-van Creveld syndrome protein 2; EVC2; Limbin
基因别名: EVC2; LBN; WAD
UniProt ID: (Human) Q86UK5
Entrez Gene ID: (Human) 132884