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This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Three alternatively spliced transcript variants that encode different proteins have been described for this gene.
AW045994; B9; B9 domain containing 1; B9 domain-containing protein 1; B9 protein domain 1; B9D1; Endothelial precursor cells protein B9; endothelial precursor protein B9; Eppb9; MKS1-related protein 1; MKS9; MKSR1
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