• accession：NM_033028
• 基因别名：BBS4
• 基因描述：Homo sapiens Bardet-Biedl syndrome 4 (BBS4), transcript variant 1, mRNA.
• 载体： 现货载体
• CDS区长度：1560
• 翻译后氨基酸长度：519
• TranscriptVariant：This variant (1) encodes the longer isoform (1).
• 基因简介：This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with six other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.[provided by RefSeq, Jan 2009]
• 载体信息：自有图片地址
• 规格：10ul 质粒

CDS区参考序列： 点击查看序列

ATGGCTGAGGAGAGAGTCGCGACGAGAACTCAATTTCCTGTATCTACTGAGTCTCAAAAACCCCGGCAGAAAAAAGCTCCAGAGTTTCCTATTTTGGAGAAGCAGAACTGGTTGATTCATCTTCATTATATCCGGAAAGATTATGAAGCCTGCAAGGCTGTTATCAAAGAACAGCTTCAAGAGACTCAGGGATTGTGTGAATATGCTATCTATGTCCAAGCATTGATATTTCGCCTAGAAGGAAATATCCAAGAATCCCTAGAACTCTTCCAGACATGTGCAGTTCTTAGTCCTCAGAGTGCTGATAACCTCAAGCAGGTGGCCAGATCTTTATTTCTTTTGGGAAAACATAAAGCTGCCATTGAAGTATATAATGAAGCAGCTAAACTCAACCAGAAAGATTGGGAGATCAGCCATAACCTAGGAGTTTGCTACATATACCTGAAGCAGTTCAACAAGGCACAAGACCAGTTGCACAATGCCCTGAATCTTAATAGGCACGATCTGACTTATATAATGCTGGGGAAGATCCACTTGCTGGAGGGAGACTTGGACAAGGCCATTGAAGTCTACAAGAAAGCAGTGGAGTTCTCACCAGAAAATACAGAGCTTCTTACAACTTTAGGATTACTCTACTTACAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAGGCCATCTTGGCAGCAGGCAGCATGATGCAGACCCACGGGGACTTTGATGTTGCCCTCACCAAATACAGAGTTGTGGCTTGTGCTGTTCCAGAAAGTCCTCCACTCTGGAATAACATTGGAATGTGTTTCTTTGGCAAGAAGAAATATGTGGCGGCCATCAGCTGCCTGAAACGAGCCAACTACTTGGCACCCTTCGATTGGAAGATTCTGTATAATTTGGGCCTTGTCCATTTGACCATGCAGCAGTATGCATCAGCTTTTCATTTTCTCAGTGCGGCCATCAACTTCCAGCCAAAGATGGGGGAGCTCTACATGCTCTTGGCAGTGGCTCTGACCAATCTGGAAGATATAGAAAATGCCAAGAGAGCCTACGCAGAAGCAGTCCACCTGGATAAGTGTAACCCTTTAGTAAACCTGAACTATGCTGTGCTGCTGTACAACCAGGGCGAGAAGAAGAACGCCCTGGCCCAATATCAGGAGATGGAGAAGAAAGTCAGCCTACTCAAGGACAATAGCTCTCTGGAATTTGACTCTGAGATGGTGGAGATGGCTCAGAAGTTGGGAGCTGCTCTCCAGGTTGGGGAGGCACTGGTCTGGACCAAACCAGTTAAAGATCCCAAATCAAAGCACCAGACCACTTCAACCAGCAAACCTGCCAGTTTCCAGCAGCCTCTGGGCTCTAATCAAGCTCTAGGACAGGCAATGTCTTCAGCAGCTGCATACAGGACGCTCCCCTCAGGTGCTGGAGGAACATCCCAGTTCACAAAGCCCCCATCTCTTCCTCTGGAGCCAGAGCCTGCGGTGGAATCAAGTCCAACTGAAACATCAGAACAAATAAGAGAGAAATAA

翻译后氨基酸参数序列： 点击查看序列

ATGGCTGAGGAGAGAGTCGCGACGAGAACTCAATTTCCTGTATCTACTGAGTCTCAAAAACCCCGGCAGAAAAAAGCTCCAGAGTTTCCTATTTTGGAGAAGCAGAACTGGTTGATTCATCTTCATTATATCCGGAAAGATTATGAAGCCTGCAAGGCTGTTATCAAAGAACAGCTTCAAGAGACTCAGGGATTGTGTGAATATGCTATCTATGTCCAAGCATTGATATTTCGCCTAGAAGGAAATATCCAAGAATCCCTAGAACTCTTCCAGACATGTGCAGTTCTTAGTCCTCAGAGTGCTGATAACCTCAAGCAGGTGGCCAGATCTTTATTTCTTTTGGGAAAACATAAAGCTGCCATTGAAGTATATAATGAAGCAGCTAAACTCAACCAGAAAGATTGGGAGATCAGCCATAACCTAGGAGTTTGCTACATATACCTGAAGCAGTTCAACAAGGCACAAGACCAGTTGCACAATGCCCTGAATCTTAATAGGCACGATCTGACTTATATAATGCTGGGGAAGATCCACTTGCTGGAGGGAGACTTGGACAAGGCCATTGAAGTCTACAAGAAAGCAGTGGAGTTCTCACCAGAAAATACAGAGCTTCTTACAACTTTAGGATTACTCTACTTACAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAGGCCATCTTGGCAGCAGGCAGCATGATGCAGACCCACGGGGACTTTGATGTTGCCCTCACCAAATACAGAGTTGTGGCTTGTGCTGTTCCAGAAAGTCCTCCACTCTGGAATAACATTGGAATGTGTTTCTTTGGCAAGAAGAAATATGTGGCGGCCATCAGCTGCCTGAAACGAGCCAACTACTTGGCACCCTTCGATTGGAAGATTCTGTATAATTTGGGCCTTGTCCATTTGACCATGCAGCAGTATGCATCAGCTTTTCATTTTCTCAGTGCGGCCATCAACTTCCAGCCAAAGATGGGGGAGCTCTACATGCTCTTGGCAGTGGCTCTGACCAATCTGGAAGATATAGAAAATGCCAAGAGAGCCTACGCAGAAGCAGTCCACCTGGATAAGTGTAACCCTTTAGTAAACCTGAACTATGCTGTGCTGCTGTACAACCAGGGCGAGAAGAAGAACGCCCTGGCCCAATATCAGGAGATGGAGAAGAAAGTCAGCCTACTCAAGGACAATAGCTCTCTGGAATTTGACTCTGAGATGGTGGAGATGGCTCAGAAGTTGGGAGCTGCTCTCCAGGTTGGGGAGGCACTGGTCTGGACCAAACCAGTTAAAGATCCCAAATCAAAGCACCAGACCACTTCAACCAGCAAACCTGCCAGTTTCCAGCAGCCTCTGGGCTCTAATCAAGCTCTAGGACAGGCAATGTCTTCAGCAGCTGCATACAGGACGCTCCCCTCAGGTGCTGGAGGAACATCCCAGTTCACAAAGCCCCCATCTCTTCCTCTGGAGCCAGAGCCTGCGGTGGAATCAAGTCCAACTGAAACATCAGAACAAATAAGAGAGAAATAA