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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for BBS10 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 79738 Official gene symbol BBS10 Full name Bardet-Biedl syndrome 10 Aliases ,C12orf58,FLJ23560, Gene summary This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their 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 is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq] Location Chromosome: 12   Locus: 12q21.2 Gene position 76742222 - 76738266  Map Viewer Gene orientation minus Gene size 3957 bp Gene sequence >BBS10:complement(38881572..38885528):Length=3957 ATTCCGTTTCCGGCCGTTCCCACCCCTGTTTTCGGTCGGCCCGGGTGTTCTGCAAGCTGG TCAAAAAGGGGAAGCGGCCCAGATATGTTAAGTTCTATGGCCGCTGCAGGGTCTGTGAAG GCGGCGTTGCAGGTGGCCGAGGTGCTGGAAGCCATCGTGAGCTGCTGCGTGGGGCCCGAG GGACGGCAAGTTTTGTGTACGAAGCCCACTGGCGAGGTGCTTCTCAGCCGGAATGGAGGC CGCCTCCTGGAGGCGCTACACTTAGAGCATCCCATAGCCAGGTACCCGCGTCCCACACGC TAACCCGTAGCCGGGCACCCCAGGCAGCCTCTGTGGAGCTCTTGTCCCATCCTGAGGCGA TGCGTACTTAGAAAGACTGACCTCGGGTGAAACCGCTGTATGCTCGGAATTAGAGCCCTG CCCAAGGGAACACTCCTGCACCCCAAATCTTACCAATTCTCAAGACCACTTCTCCCCACT CCACCCAACGGTGGAATCTTGGAATAGAGCAGAGTTTTTTCCAAGAAAGGAAAAAACTAA GGATGTATCCAAGGAACAATATTCTCATTTTATGCTTATGGCTGTGTAAACATGGTTTTA AGATGTGGGAAGCCAGCCTTCTGAAAATGAGTTGCTTTATTTCTTTTTTGTACAGGATGA TAGTGGACTGTGTTTCCAGTCATCTCAAAAAAACAGGAGATGGTGCAAAAACATTTATTA TCTTTCTTTGCCATTTGCTTAGAGGACTTCATGCAATCACAGACAGAGAAAAGGATCCTT TGATGTGTGAAAACATTCAAACCCATGGAAGGCATTGGAAAAATTGTTCTCGGTGGAAAT TTATTTCCCAGGCTCTCCTAACGTTTCAGACACAAATATTAGACGGTATTATGGACCAGT ACCTAAGTAGACACTTTTTGTCTATCTTTTCGTCTGCTAAAGAGAGAACATTGTGTAGGA GCTCTTTAGAGTTGCTCTTAGAAGCATACTTTTGTGGAAGAGTGGGAAGAAATAATCATA AATTTATTTCACAGTTGATGTGTGACTACTTTTTCAAGTGTATGACTTGTAAAAGTGGGA TTGGTGTATTTGAGTTAGTGGATGACCATTTTGTAGAGTTGAATGTTGGTGTCACTGGCC TTCCTGTTTCAGATTCCAGGATCATAGCTGGTCTTGTGCTTCAGAAAGATTTTTCTGTGT ACCGCCCAGCAGATGGTGACATGCGAATGGTGATAGTAACAGAAACCATTCAGCCTCTTT TTTCCACTTCTGGATCAGAGTTTATTCTAAATTCAGAAGCACAGTTTCAGACATCTCAAT TTTGGATTATGGAAAAGACAAAAGCAATAATGAAACATCTACATAGTCAGAATGTAAAAT TGCTCATATCTAGTGTGAAACAACCAGATTTAGTTAGTTATTATGCAGGGGTGAATGGCA TATCAGTGGTTGAGTGTTTATCATCAGAAGAAGTTTCTCTTATCCGGAGGATCATTGGTC TTTCTCCATTTGTACCACCACAGGCCTTTTCGCAGTGTGAAATACCTAACACTGCTTTGG TGAAATTTTGTAAACCTCTTATCCTTAGATCCAAAAGATATGTTCATCTAGGCTTGATAA GCACATGTGCATTTATACCACACTCTATAGTTCTTTGTGGACCAGTGCATGGTCTCATTG AACAACATGAGGATGCTTTACATGGAGCACTTAAAATGCTTCGGCAATTATTTAAAGACC TTGATCTAAATTACATGACACAAACCAATGACCAAAATGGCACTTCAAGTCTTTTTATTT ATAAGAACAGTGGAGAAAGTTATCAAGCACCAGATCCTGGTAATGGCTCAATACAAAGGC CTTATCAGGACACAGTTGCAGAGAACAAAGATGCATTGGAAAAAACTCAAACATATTTAA AAGTACATTCTAATTTGGTAATTCCAGATGTAGAATTAGAAACATATATTCCGTATTCAA CCCCCACACTGACACCAACAGATACATTCCAAACAGTTGAAACGCTGACATGTTTGTCTT TGGAAAGAAACAGGCTAACTGATTATTATGAACCATTACTCAAGAACAATTCCACTGCTT ATTCAACAAGGGGAAATAGAATAGAAATTTCTTACGAAAATTTACAGGTCACAAATATTA CTAGAAAGGGAAGCATGTTACCAGTGAGCTGTAAGTTACCGAATATGGGTACTTCCCAGA GTTACCTTTCCTCATCTATGCCAGCTGGTTGTGTTTTGCCAGTAGGTGGTAATTTTGAGA TCTTGTTACATTACTATCTTCTCAATTATGCCAAAAAATGCCATCAATCAGAAGAAACCA TGGTTAGTATGATAATAGCTAATGCACTTTTAGGCATTCCCAAAGTCCTTTATAAATCTA AAACAGGAAAGTACAGCTTTCCACATACATATATAAGAGCTGTCCATGCACTGCAAACCA ATCAACCCTTGGTAAGCAGTCAGACAGGTTTGGAATCAGTAATGGGTAAATACCAGCTAC TAACTTCAGTTCTTCAGTGTTTGACAAAAATATTAACCATTGACATGGTAATCACTGTTA AGAGACACCCTCAGAAAGTTCACAATCAAGATTCAGAAGATGAACTATAACATCAGAAGT TTTTAATTAACCAAACTTTTCATCTAACTCAAGCCAAGTAAAGCAGTCATGTGACCACTG GTTCTAAAGTCAGTTCAGTCTACTTAGGAAAATAGCGTAACTTTAAAAGTCTTTAGAAGA AGCACACTAAGGTCACCAGACCAGATACAAATATTAAATTACTTTATGGAACAAATCTAG AGGGGAAGCCAAGATTTGGCTAAGTGTGTCTGTTTTTTCCCTATTTTATGCCTCTGTGTC TCAGCTCTGTGTTAGCCTATGTGTTTAGGGGAGGGTTTTTCTTTATAGCTCCTTTTTACT CTCCTGTATCTTTTTCACTCCAGCCCTCCTTCATCGTTACATGTTTAGTTCATAGAATCA TTTAATCTCTGATTTGGGTGGGCTTATTCTAATTGTTTTTAATATTGAATACATTATTTG CATTAATTTTCCCTACTCATACTTTGTAAAGCTGAGTAAAAGGCTCAAATTATTTTTTTC AAAAAGCATAAAATTAAATTAGCAGTGAGTAAAAGGCTCAAATTTTTTTTCAAAAAGCAT AAAATTAATTTTTACTTTTATGTGGTCATTGGTTTACTGCCACTTCATTTGGAAAACTTG GATAGATTTTCACCTTTGATATACCTTTGAATATATGTTACCTGAAATATAACTGTGCAT TGTTAACTCTTTCATTTCTGTAGTAAAAGGTTAATACTAGAAAGGATATGCAATTAATAC TTTGATTTTCTCCTGACCCCAAGAGCTTGTAAGGATATGTCATGTATTTACTGGTTTTTC TTGTATCTGGTGCATAGCCAGAGTTCCACAGTAACAAATAATTTGACAATTTTTATTTCT AATGTTTATTTCTGTTTTATTTTTAATTTTTATTTCTAATTTATTTCATTTACAAATGTT CATATTTTAAAAACTTGTCAATGTAAATAATATGATGCATCTTATCATGGACAAGGACAG TGTTTTCTACCTTTATCAGTTCTCTGTAATACCCAAAACAGTGCTGTATTTACTCCAAGT ATTCAGAAGTGCTTGTTGAACAAAACAGTGTTATCTTTAATTCATTCCTTTAAATACATG TTTCCAGTTTACTTATTCAACAGATTCTTACTTGGGATTGACTGAAGAAAAAAAACTTTA ATTATAGTTGAATAAGTGTTGACTAATGTATTTTAAAAACTATAATATCAAAATTTTTTA TATTAAATGTAATTCTGATTTTTTAAACATTTATGCTATATGATGCATTATTTTGTTTCT GTGAATATGGAGAGAATAAATTAGCTCTTTTGCTGAATTCATGGATGAATGAACTTT OMIM ID 610148