VANGL1 cdna clone
VANGL1 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
Uniprot Description
VANGL1: Defects in VANGL1 are a cause of neural tube defects (NTD). NTD are congenital malformations. The most common forms of NTD are described as open defects (including anencephaly and myelomeningocele, or spina bifida), which result from the failure of fusion in the cranial and spinal region of the neural tube, respectively. Other open dysraphisms (including myeloschisis, hemimyelomeningocele, and hemimyelocele) are sometimes associated with a Chiari type 2 malformation. A number of skin-covered (closed) NTD are categorized clinically depending on the presence of a subcutaneous mass (lipomyeloschisis, lipomyelomeningocele, meningocele, and myelocystocele) or the absence of such a mass (complex dysraphic states, including split cord malformations, dermal sinus, caudal regression, and segmental spinal dysgenesis). Defects in VANGL1 are a cause of sacral defect with anterior meningocele (SDAM). SDAM is a form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant. Belongs to the Vang family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Adaptor/scaffold; Membrane protein, multi-pass; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 1p13.1
Molecular Function: protein binding
Disease: Neural Tube Defects; Sacral Defect With Anterior Meningocele
Research Articles on VANGL1
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Product Notes
The VANGL1 vangl1 (Catalog #AAA1274832) 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: atggataccg aatccactta ttctggatat tcttactatt caagtcattc gaaaaaatct cacagacaag gggaaagaac tagagagaga cacaagtcac cccggaataa agacggcaga gggtcagaaa agtctgtcac cattcaacct cccactggag agcccctgtt gggaaatgat tctactcgga cagaggaagt tcaggatgac aactggggag agaccaccac ggccatcaca ggcacctcgg agcacagcat atcccaagag gacattgcca ggatcagcaa ggacatggag gacagcgtgg ggctggattg caaacgctac ctgggcctca ccgtcgcctc ttttcttgga cttctagttt tcctcacccc tattgccttc atccttttac ctccgatcct gtggagggat gagctggagc cttgtggcac aatttgtgag gggctcttta tctccatggc attcaaactc ctcattctgc tcatagggac ctgggcactt tttttccgca agcggagagc tgacatgcca cgggtgtttg tgtttcgtgc ccttttgttg gtcctcatct ttctctttgt ggtttcctat tggctttttt acggggtccg cattttggac tctcgggacc ggaattacca gggcattgtg caatatgcag tctcccttgt ggatgccctc ctcttcatcc attacctggc catcgtcctg ctggagctca ggcagctgca gcccatgttc acgctgcagg tggtccgctc caccgatggc gagtcccgct tctacagcct gggacacctg agtatccagc gagcagcatt ggtggtccta gaaaattact acaaagattt caccatctat aacccaaacc tcctaacagc ctccaaattc cgagcagcca agcatatggc cgggctgaaa gtctacaatg tagatggccc cagtaacaat gccactggcc agtcccgggc catgattgct gcagctgctc ggcgcaggga ctcaagccac aacgagttgt attatgaaga ggccgaacat gaacggcgag taaagaagcg gaaagcaagg ctggtggttg cagtggaaga ggccttcatc cacattcagc gtctccaggc tgaggagcag cagaaagccc caggggaggt gatggaccct agggaggccg cccaggccat tttcccctcc atggccaggg ctctccagaa gtacctgcgc atcacccggc agcagaacta ccacagcatg gagagcatcc tgcagcacct ggccttctgc atcaccaacg gcatgacccc caaggccttc ctagaacggt acctcagtgc gggccccacc ctgcaatatg acaaggaccg ctggctctct acacagtgga ggcttgtcag tgatgaggct gtgactaatg gattacggga tggaattgtg ttcgtcctta agtgcttgga cttcagcctc gtagtcaatg tgaagaaaat tccattcatc atactctctg aagagttcat agaccccaaa tctcacaaat ttgtccttcg cttacagtct gagacatccg tttaa. It is sometimes possible for the material contained within the vial of "VANGL1, 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
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