RIN2 cdna clone
RIN2 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]
Uniprot Description
RIN2: Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5 proteins by exchanging bound GDP for free GTP. Defects in RIN2 are the cause of MACS syndrome (MACS); also called macrocephaly alopecia cutis laxa and scoliosis syndrome. MACS is an autosomal-recessive inherited complex disorder of elastic tissue, characterized by sagging skin and occasionally by life-threatening visceral complications. Belongs to the RIN (Ras interaction/interference) family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Motility/polarity/chemotaxis; GEFs, Rab; GEFs
Chromosomal Location of Human Ortholog: 20p11.22
Disease: Macs Syndrome
Research Articles on RIN2
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Product Notes
The RIN2 rin2 (Catalog #AAA1269601) 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: ATGACAGCTT GGACCATGGG CGCCCGCGGT CTGGACAAGC GAGGAAGTTT CTTTAAGCTC ATTGACACAA TTGCCTCGGA GATCGGAGAA CTGAAACAGG AGATGGTGCG GACAGATGTC AACCTGGAAA ATGGCCTGGA ACCCGCTGAA ACCCACAGCA TGGTAAGACA CAAGGATGGT GGCTATTCCG AGGAAGAGGA CGTGAAGACC TGTGCCCGGG ACTCAGGCTA TGACAGCCTC TCCAACAGGC TCAGCATCTT GGACCGGCTC CTCCACACCC ACCCCATATG GCTGCAGCTG AGTCTGAGTG AGGAGGAGGC AGCAGAGGTC CTGCAGGCCC AGCCTCCGGG GATCTTCCTG GTTCATAAAT CTACCAAGAT GCAGAAGAAA GTCCTCTCCC TCCGCCTGCC CTGTGAATTT GGGGCCCCAC TCAAGGAATT TGCCATAAAG GAAAGCACAT ACAATGTGGT GCTGGAAAAA GCCATGCACA AGTGCATCTT GAAGCCCCTC AAGGGGCATG TGGAGGCCAT GCTGAAGGAC TTTCACATGG CCGATGGCTC ATGGAAGCAA CTCAAGGAGA ACCTGCAGCT TGTGCGGCAG AGGAATCCGC AGGAGCTGGG GGTCTTCGCC CCGACCCCTG ATTTTGTGGA TGTGGAGAAA ATCAAAGTCA AGTTCATGAC CATGCAGAAG ATGTATTCGC CGGAAAAGAA GGTCATGCTG CTGCTGCGGG TCTGCAAGCT CATTTACACG GTCATGGAGA ACAACTCAGG GAGGATGTAT GGCGCTGATG ACTTCTTGCC AGTCCTGACC TATGTCATAG CCCAGTGTGA CATGCTTGAA TTGGACACTG AAATCGAGTA CATGATGGAG CTCCTAGACC CATCGCTGTT ACATGGAGAA GGAGGCTATT ACTTGACAAG CGCATATGGA GCACTTTCTC TGATAAAGAA TTTCCAAGAA GAACAAGCAG CGCGACTGCT CAGCTCAGAA ACCAGAGACA CCCTGAGGCA GTGGCACAAA CGGAGAACCA CCAACCGGAC CATCCCCTCT GTGGACGACT TCCAGAATTA CCTCCGAGTT GCATTTCAGG AGGTCAACAG TGGTTGCACA GGAAAGACCC TCCTTGTGAG ACCTTACATC ACCACTGAGG ATGTGTGTCA GATCTGCACT GAGAAGTTCA AGGTGGGGGA CCCTGAGGAG TACAGCCTCT TTCTCTTCGT TGACGAGACA TGGCAGCAGC TGGCAGAGGA CACTTACCCT CAAAAAATCA AGGCGGAGCT GCACAGCCGA CCACAGCCCC ACATCTTCCA CTTTGTCTAC AAACGCATCA AGAACGATCC TTATGGCATC ATTTTCCAGA ACGGGGAAGA AGACCTCACC ACCTCCTAG. It is sometimes possible for the material contained within the vial of "RIN2, 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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