Product Name
BBS9, cDNA Clone
Full Product Name
BBS9 cDNA Clone
Product Gene Name
BBS9 cdna clone
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
ATGTCTTTAT TTAAAGCCCG TGATTGGTGG TCTACTATTC TGGGAGATAA AGAAGAATTT GATCAAGGCT GTTTGTGTCT GGCTAATGTT GACAATAGTG GAAATGGACA AGATAAAATA ATTGTGGGTA GCTTTATGGG ATACCTAAGG ATCTTTAGCC CCCATCCTGC AAAAACAGGA GATGGAGCTC AAGCCGAAGA TTTGCTTCTA GAAGTGGATC TACGAGATCC AGTACTTCAA GTGGAAGTAG GAAAGTTTGT TTCAGGTACC GAAATGCTAC ATTTGGCTGT GTTACATTCT AGAAAACTTT GTGTCTACTC TGTCTCAGGA ACCTTGGGTA ATGTGGAACA TGGGAACCAA TGTCAGATGA AATTGATGTA TGAACATAAT CTTCAGAGAA CAGCCTGCAA TATGACCTAT GGATCATTTG GTGGTGTAAA AGGTCGAGAT TTAATTTGCA TCCAGTCTAT GGATGGGATG CTGATGGTAT TTGAGCAGGA GAGCTATGCT TTTGGAAGAT TTCTCCCTGG CTTTCTTCTG CCTGGTCCTC TTGCCTACAG TTCCCGTACA GATTCCTTCC TTACTGTCTC TTCCTGCCAA CAAGTGGAAA GTTATAAGTA CCAGGTACTT GCTTTTGCAA CAGATGCAGA TAAAAGGCAG GAGACTGAAC AGCAAAAACT TGGTTCTGGA AAAAGACTAG TTGTGGATTG GACTCTAAAT ATTGGAGAGC AAGCCCTTGA CATATGTATT GTCTCTTTCA ATCAGTCGGC ATCCTCTGTT TTTGTTCTTG GTGAGAGAAA CTTTTTTTGC CTTAAGGATA ATGGACAAAT TCGATTCATG AAGAAGCTTG ATTGGAGCCC AAGTTGTTTT CTGCCATATT GCTCAGTTTC TGAAGGAACA ATAAATACTT TGATTGGAAA TCATAATAAC ATGCTGCATA TTTATCAAGA TGTGACACTG AAGTGGGCCA CCCAACTTCC CCACATTCCT GTAGCAGTAA GAGTGGGCTG TTTGCATGAT TTAAAGGGAG TGATAGTCAC TCTGAGTGAT GATGGTCACT TGCAGTGTTC ATACCTGGGG ACAGATCCTT CTCTGTTCCA AGCTCCAAAC GTTCAATCTC GAGAACTAAA CTATGATGAA CTTGATGTAG AAATGAAAGA ACTTCAGAAA ATCATCAAAG ATGTTAACAA ATCACAAGGT GTTTGGCCCA TGACTGAGAG AGAAGATGAC TTGAACGTTT CTGTCGTGGT TTCTCCTAAC TTTGATTCAG TTTCTCAAGC GACCGATGTT GAGGTGGGAA CTGACCTTGT CCCTTCTGTC ACGGTGAAGG TCACACTGCA GAACAGAGTG ATATTGCAAA AAGCCAAATT ATCAGTCTAC GTGCAACCAC CATTAGAATT GACTTGTGAT CAGTTCACCT TTGAATTTAT GACACCAGAT TTGACTAGAA CAGTAAGCTT TTCTGTTTAT CTGAAAAGAA GTTATACACC ATCAGAATTG GAAGGAAATG CTGTTGTTTC TTATTCCAGA CCAACAGATC GAAATCCTGA TGGCATTCCG CGAGTTATCC AATGTAAATT TAGACTTCCC CTAAAGTTAA TTTGCCTACC AGGTCAGCCT TCAAAAACTG CAAGCCACAA AATTACTATT GATACCAACA AATCTCCAGT CAGTCTTCTT AGTCTCTTCC CAGGTTTTGC CAGTCAGTCA GATGATGATC AGGTGAATGT AATGGGTTTT CACTTCTTAG GAGGTGCTCG AATTACTGTT CTTGCTTCCA AAACTTCTCA ACGATATCGC ATTCAGAGTG AACAATTTGA AGATCTTTGG CTCATAACCA ATGAGCTTAT TCTTCGCCTT CAAGAATATT TTGAAAAACA GGGAGTCAAA GATTTTGCAT GTTCTTTTTC GGGATCTATA CCCCTTCAAG AATATTTTGA GTTGATTGAT CATCATTTTG AGCTACGGAT AAATGGTGAA AAATTAGAAG AACTCTTATC TGAGAGAGCT GTACAATTTC GGGCCATTCA ACGCCGGCTA CTAGCAAGAT TCAAAGATAA AACTCCTGCC CCTCTTCAAC ACCTGGACAC CTTGTTAGAT GGAACCTACA AGCAGGTAAT TGCTCTAGCA GATGCAGTGG AGGAAAACCA AGGCAATCTG TTCCAGTCAT TCACCAGGCT GAAGAGTGCC ACCCATTTGG TGATTCTGCT GATCGCGCTG TGGCAGAAGC TTAGTGCTGA CCAGGTTGCT ATTCTGGAAG CGGCATTTCT GCCGCTACAA GAAGACACTC AAGAATTGGG CTGGGAAGAA ACGGTGGATG CCGCCATTTC CCACCTGTTG AAGACTTGCC TGTCGAAGAG TTCTAAGGAG CAGGCTTTGA ACCTCAACAG CCAGCTGAAC ATACCCAAAG ACACAAGCCA ACTGAAGAAA CATATCACCT TGCTCTGCGA TAGATTATCC AAAGGTGGCC GTCTCTGCCT AAGTACCGAT GCAGCAGCCC CACAGACCAT GGTCATGCCA GGTGGTTGTA CTACAATCCC AGAGTCAGAC CTAGAAGAAA GATCAGTAGA ACAAGACTCT ACAGAACTGT TTACCAACCA CAGACATCTC ACTGCAGAGA CACCCAGGCC TGAAGTTTCA CCCCTCCAAG GAGTCTCGGA ATAA
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of BBS9 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for BBS9. It may not necessarily be applicable to this product.
NCBI Accession #
BC103831
[Other Products]
UniProt Secondary Accession #
P78514; Q7KYS6; Q7KYS7; Q8N570; Q99844; Q99854; Q9Y699; Q9Y6A0; E9PDC9[Other Products]
UniProt Related Accession #
Q3SYG4[Other Products]
Molecular Weight
98,683 Da
NCBI Official Full Name
Homo sapiens Bardet-Biedl syndrome 9, mRNA
NCBI Official Synonym Full Names
Bardet-Biedl syndrome 9
NCBI Official Symbol
BBS9 [Similar Products]
NCBI Official Synonym Symbols
B1; D1; C18; PTHB1
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NCBI Protein Information
protein PTHB1
UniProt Protein Name
Protein PTHB1
UniProt Synonym Protein Names
Bardet-Biedl syndrome 9 protein; Parathyroid hormone-responsive B1 gene protein
UniProt Gene Name
BBS9 [Similar Products]
UniProt Synonym Gene Names
PTHB1 [Similar Products]
UniProt Entry Name
PTHB1_HUMAN
NCBI Summary for BBS9
This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
UniProt Comments for BBS9
BBS9: The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. A chromosomal aberration involving PTHB1 is found in Wilms tumor 5 (WT5). Translocation t(1;7)(q42;p15) with OBSCN. Defects in BBS9 are a cause of Bardet-Biedl syndrome type 9 (BBS9). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. 6 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 7p14
Cellular Component: cilium; cytosol; membrane; pericentriolar material
Molecular Function: protein binding
Biological Process: fat cell differentiation
Disease: Bardet-biedl Syndrome 9
Research Articles on BBS9
1. BBS9/PTHB1 gene mutations have been shown to be associated with Bardet Biedl syndrome and to the best of our knowledge this study reports the first Pakistani family linked to the BBS9 gene.
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