IFT122 cdna clone
IFT122 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Uniprot Description
IFT122: Required for cilia formation and Shh signaling during neuronal patterning. Defects in IFT122 are a cause of cranioectodermal dysplasia type 1 (CED1). CED1 is a disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture synostosis), scaphocephaly, short stature, limb shortening, short ribs, narrow chest, brachydactyly, renal failure and hepatic fibrosis, small and abnormally shaped teeth, sparse hair, skin laxity and abnormal nails. 4 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 3q21
Cellular Component: cilium; membrane; photoreceptor connecting cilium
Molecular Function: protein binding
Biological Process: camera-type eye morphogenesis; embryonic body morphogenesis; embryonic heart tube development; limb development; negative regulation of smoothened signaling pathway; neural tube closure
Disease: Cranioectodermal Dysplasia 1
Research Articles on IFT122
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Product Notes
The IFT122 ift122 (Catalog #AAA1272724) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atgagggccg tgttgacgtg gagagataaa gccgagcact gtataaatga catcgcattt aagcctgatg gaactcaact gattttggct gccggaagca gattactggt ttatgacacc tctgatggca ccttacttca gcccctcaag ggacacaaag acactgtgta ctgtgtggca tatgcgaagg atgggttgtg gtctcctgaa cagaagtctg tctccaaaca caaatcaagc agcaagatca tctgctgcag ctggacaaat gatggtcagt acctggcgct ggggatgttc aatgggatca tcagcatacg gaacaaaaat ggcgaggaga aagtaaagat cgagcggccg gggggctccc tctcgccaat atggtccatc tgctggaacc cttcaagaga ggaacgtaat gacatcctgg ctgtggctga ctggggacag aaagtttcct tctaccagct gagtggaaaa cagattggaa aggatcgggc actgaacttt gacccctgct gcatcagcta ctttactaaa ggcgagtaca ttttgctggg gggttcagac aagcaagtat ctcttttcac caaggatgga gtgcggcttg ggactgttgg ggagcagaac tcctgggtgt ggacgtgtca agcgaaaccg gattccaact atgtggtggt cggctgccag gacggcacca tttccttcta ccagcttatt ttcagcacag tccatgggct ttacaaggac cgctatgcct acagggatag catgactgac gtcattgtgc agcacctgat cactgagcag aaagttcgga ttaaatgcaa agagcttgtc aagaagattg ccatctacag aaatcgattg gctatccaac tgccagagaa aatcctcatc tatgagttgt attcagagga cttatcagac atgcattacc gggtaaagga gaagattatc aagaagtttg agtgcaacct cctggtggtg tgtgccaatc acatcatcct gtgccaggag aaacggctgc agtgcctgtc cttcagcgga gtgaaggagc gggagtggca gatggagtct ctcattcgtt acatcaaggt gatcggtggc cctcctggaa gagaaggcct cttagtgggg ctgaagaatg gacagatcct gaagatcttc gtggacaatc tctttgctat cgtcctgctg aagcaggcca cagctgtgcg ctgcttggac atgagtgcct cccgtaagaa gctggccgtg gtagatgaaa atgacacttg cctggtgtat gacatcgaca ccaaggagct gctttttcag gaaccaaacg ccaacagtgt agcttggaac acccagtgtg aggacatgct ctgcttctcg ggaggaggct acctcaacat caaagccagc accttccctg tgcaccggca gaagctgcag ggctttgtgg tcggctacaa tggctccaag atcttctgcc tccatgtctt ctccatttct gccgtggagg tgccgcagtc cgctcccatg taccagtacc tggataggaa actgttcaag gaagcctacc agattgcttg cttgggtgtc acagacactg attggcgtga actggccatg gaagcgctag aaggtttaga ttttgaaact gcaaagaagg ccttcatcag agtacaagac ctccgatatt tagagctcat cagcagcatt gaggagagga agaagcgggg agagaccaac aatgacctgt ttctggcaga tgtgttttcc taccagggga agttccatga ggccgccaaa ctgtacaaga ggagtgggca cgagaacctc gcgcttgaaa tgtacaccga cctctgcatg tttgagtatg ccaaggattt ccttggatct ggagacccca aagaaacaaa gatgctaatc accaaacagg ctgactgggc cagaaatatc aaggagccca aagccgccgt ggagatgtac atctcagcag gagagcacgt caaggccatc gagatctgtg gtgaccatgg ctgggttgac atgttgatcg acatcgcccg caaactggac aaggctgagc gcgagcccct gctgctgtgc gctacctacc tcaagaagct ggacagccct ggctatgctg ctgagaccta cctgaagatg ggtgacctca agtccctggt gcagctgcac gtggagaccc agcgctggga tgaggccttt gctttgggtg agaagcatcc tgagtttaag gatgacatct acatgccgta tgctcagtgg ctagcagaga acgatcgctt tgaggaagcc cagaaagcgt tccacaaggc tgggcgacag agagaagcgg tccaggtgct ggagcagctc acaaacaatg ccgtggcgga gagcaggttt aatgatgctg cctattatta ctggatgctg tccatgcagt gcctcgatat agctcaagca gatcctgccc agaaggacac aatgcttggc aagttctacc acttccagcg tttggcagag ctgtaccatg gttaccatgc catccatcgc cacacggaag atccgttcag tgtccatcgt cctgaaactc ttttcaacat ctccaggttc ctgctgcaca gcctgcccaa ggacaccccc tcgggcatct ctaaagtgaa aatactcttc accttggcca agcagagcaa ggccctcggt gcctacaggc tggcccggca cgcctatgac aagctgcgtg gcctgtacat ccctgccaga ttccaaaagt ccattgagct gggtaccctg accatccgcg ccaagccctt ccacgacagt gaggagttgg tgcccttgtg ctaccgctgc tccaccaaca acccgctgct caacaacctg ggcaacgtct gcatcaactg ccgccagccc ttcatcttct ccgcctcttc ctacgacgtg ctacacctgg ttgagttcta cctggaggaa gggatcactg atgaagaagc catctccctc atcgacctgg aggtgctgag acccaagcgg gatgacagac agctagagat tgcaaacaac agctcccaga ttctgcggct agtggagacc aaggactcca tcggagatga ggacccgttc acagctaagc tgagctttga gcaaggtggc tcagagttcg tgccagtggt ggtgagccgg ctggtgctgc gctccatgag ccgccgggat gtcctcatca agcgatggcc cccacccctg aggtggcaat acttccgctc actgctgcct gacgcctcca ttaccatgtg cccctcctgc ttccagatgt tccattctga ggactatgag ttgctggtgc ttcagcatgg ctgctgcccc tactgccgca ggtgcaagga tgaccctggc ccatga. It is sometimes possible for the material contained within the vial of "IFT122, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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