ARL13B cdna clone
ARL13B cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Uniprot Description
ARL13B: Defects in ARL13B are the cause of Joubert syndrome type 8 (JBTS8). JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermis hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Belongs to the small GTPase superfamily. Arf family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: G protein, monomeric; G protein, monomeric, ARF
Chromosomal Location of Human Ortholog: 3q11.1
Cellular Component: cilium
Molecular Function: protein binding
Biological Process: cilium biogenesis; formation of radial glial scaffolds; interneuron migration from the subpallium to the cortex; neural tube patterning; sensory cilium biogenesis; smoothened signaling pathway
Disease: Joubert Syndrome 8
Research Articles on ARL13B
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Product Notes
The ARL13B arl13b (Catalog #AAA1274542) 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: ATGTTCAGTC TGATGGCCAG TTGCTGCGGC TGGTTCAAGC GGTGGCGGGA GCCTGTCAGA AAGGTGACTC TTTTGATGGT GGGACTTGAT AATGCTGGTA AAACCGCAAC AGCAAAGGGA ATCCAAGGAG AATACCCTGA AGATGTAGCT CCTACTGTTG GATTTTCAAA AATTAACCTT AGACAAGGAA AGTTTGAAGT CACCATCTTT GACTTGGGAG GTGGAATAAG AATTCGGGGA ATCTGGAAGA ATTACTATGC TGAATCCTAT GGGGTAATAT TTGTTGTGGA TTCCAGTGAT GAAGAGAGAA TGGAAGAGAC AAAAGAGGCT ATGTCAGAAA TGCTAAGACA TCCTAGGATA TCGGGAAAGC CTATATTGGT GTTGGCAAAT AAACAAGATA AAGAAGGAGC TTTAGGAGAA GCTGATGTCA TTGAATGTCT ATCTCTGGAA AAATTGGTCA ATGAGCACAA GTGCCTGTGT CAGATAGAAC CATGTTCAGC AATCTCGGGG TATGGAAAGA AAATTGACAA GTCCATTAAA AAAGGCCTTT ATTGGCTGCT ACATGTTATT GCAAGAGACT TTGATGCCTT AAATGAACGC ATCCAAAAAG AGACAACAGA GCAGCGTGCT CTTGAGGAAC AAGAGAAACA AGAAAGAGCT GAACGAGTGC GAAAATTACG AGAAGAAAGA AAACAAAATG AACAGGAGCA GGCTGAACTC GATGGAACCA GTGGTCTGGC TGAGTTGGAC CCAGAACCAA CGAATCCTTT CCAGCCAATA GCATCTGTAA TCATTGAGAA TGAAGGAAAA CTTGAAAGAG AGAAAAAAAA CCAAAAAATG GAGAAAGACA GTGATGGCTG CCACCTGAAA CATAAAATGG AGCATGAGCA AATAGAGACA CAAGGCCAGG TTAATCACAA TGGCCAAAAA AATAATGAAT TTGGACTAGT AGAAAATTAT AAGGAGGCAT TAACACAGCA GTTAAAGAAT GAAGATGAGA CAGACCGGCC ATCATTGGAA TCAGCTAATG GTAAAAAGAA AACTAAGAAA CTAAGAATGA AAAGGAACCA CCGGGTAGAA CCACTTAATA TAGATGACTG TGCTCCTGAG AGTCCAACGC CACCCCCACC CCCTCCTCCT GTTGGCTGGG GAACCCCTAA AGTCACTAGA CTTCCAAAAC TTGAGCCTCT TGGTGAAACA CATCATAATG ATTTCTATAG GAAGCCACTG CCTCCCCTGG CTGTGCCACA GCGACCTAAC AGTGATGCTC ATGATGTGAT CTCATAA. It is sometimes possible for the material contained within the vial of "ARL13B, 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
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