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Immunogen sequence: ASPSVFLLMV NGQVESAQFP EYDDLYCKYC FVYGQDWAPT AGLEEGISQI TSKSQDVRQA LVWN
Highest antigen sequence identity to the following orthologs: Mouse - 95%, Rat - 98%.
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.
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: B9 domain-containing protein 1; B9 protein domain 1; endothelial precursor protein B9; MKS1-related protein 1
基因别名: B9; B9D1; EPPB9; MKS9; MKSR1
UniProt ID: (Human) Q9UPM9
Entrez Gene ID: (Human) 27077