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Immunogen sequence: MATASPSVFL LMVNGQVESA QFPEYDDLYC KYCFVYGQDW APTAGLEEGI SQITSKSQDV RQALVWNFPI DVTFKSTNPY GWPQIVLSVY GPDVFGNDVV RGYGAVHVPF SPGRHKRTIP MFVPESTSKL; Positive Samples: HeLa, Mouse testis, Mouse lung, Mouse ovary, Mouse kidney; Cellular Location: Cytoplasm, cilium axoneme, cilium basal body, cytoskeleton
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.
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Protein Aliases: B9 domain-containing protein 1; B9 protein domain 1; Endothelial precursor cells protein B9; endothelial precursor protein B9; MKS1-related protein 1
Gene Aliases: AW045994; B9; B9D1; EPPB9; MKS9; MKSR1
UniProt ID: (Human) Q9UPM9, (Rat) P0C5J2, (Mouse) Q9R1S0
Entrez Gene ID: (Human) 27077, (Rat) 287383, (Mouse) 27078
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