ALG9 cdna clone
ALG9 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Uniprot Description
ALG9: Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides. A chromosomal aberration involving ALG9 is found in a family with bipolar affective disorder. Translocation t(9;11)(p24;q23). However, common variations in ALG9 do not play a major role in predisposition to bipolar affective disorder. Defects in ALG9 are the cause of congenital disorder of glycosylation type 1L (CDG1L). CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Belongs to the glycosyltransferase 22 family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Transferase; Glycan Metabolism - N-glycan biosynthesis; EC 2.4.1.259; EC 2.4.1.261; Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 11q23
Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane; membrane
Molecular Function: alpha-1,2-mannosyltransferase activity; mannosyltransferase activity
Biological Process: dolichol-linked oligosaccharide biosynthetic process
Disease: Congenital Disorder Of Glycosylation, Type Il; Gillessen-kaesbach-nishimura Syndrome
Research Articles on ALG9
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Product Notes
The ALG9 alg9 (Catalog #AAA1273534) 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: atggctagtc gaggggctcg gcagcgcctg aagggcagcg gggccagcag tggggatacg gccccggctg cggacaagct gcgggagctg ctgggcagcc gagaggcggg cggcgcggag caccggaccg agttatctgg gaacaaagca ggacaagtct gggcacctga aggatctact gctttcaagt gtctgctttc agcaaggtta tgtgctgctc tcctgagcaa catctctgac tgtgatgaaa cattcaacta ctgggagcca acacactacc tcatctatgg ggaagggttt cagacttggg aatattcccc agcatatgcc attcgctcct atgcttacct gttgcttcat gcctggccag ctgcatttca tgcaagaatt ctacaaacta ataagattct tgtgttttac tttttgcgat gtcttctggc ttttgtgagc tgtatttgtg aactttactt ttacaaggct gtgtgcaaga agtttgggtt gcacgtgagt cgaatgatgc tagccttctt ggttctcagc actggcatgt tttgctcatc atcagcattc cttcctagta gcttctgtat gtacactacg ttgatagcca tgactggatg gtatatggac aagacttcca ttgctgtgct gggagtagca gctggggcta tcttaggctg gccattcagt gcagctcttg gtttacccat tgcctttgat ttgctggtca tgaaacacag gtggaagagt ttctttcatt ggtcgctgat ggccctcata ctatttctgg tgcctgtggt ggtcattgac agctactatt atgggaagtt ggtgattgca ccactcaaca ttgttttgta taatgtcttt actcctcatg gacctgatct ttatggtaca gaaccctggt atttctattt aattaatgga tttctgaatt tcaatgtagc ctttgctttg gctctcctag tcctaccact gacttctctt atggaatacc tgctgcagag atttcatgtt cagaatttag gccacccgta ttggcttacc ttggctccaa tgtatatttg gtttataatt ttcttcatcc agcctcacaa agaggagaga tttcttttcc ctgtgtatcc acttatatgt ctctgtggcg ctgtggctct ctctgcactt cagcacagtt ttctgtactt ccagaaatgt taccactttg tgtttcaacg atatcgcctg gagcactata ctgtgacatc gaattggctg gcattaggaa ctgtcttcct gtttgggctc ttgtcatttt ctcgctctgt ggcactgttc agaggatatc acgggcccct tgatttgtat ccagaatttt accgaattgc tacagaccca accatccaca ctgtcccaga aggcagacct gtgaatgtct gtgtgggaaa agagtggtat cgatttccca gcagcttcct tcttcctgac aattggcagc ttcagttcat tccatcagag ttcagaggtc agttaccaaa accttttgca gaaggacctc tggccacccg gattgttcct actgacatga atgaccagaa tctagaagag ccatccagat atattgatat cagtaaatgc cattatttag tggatttgga caccatgaga gaaacacccc gggagccaaa atattcatcc aataaagaag aatggatcag cttggcctat agaccattcc ttgatgcttc tagatcttca aagctgctgc gggcattcta tgtccccttc ctgtcagatc agtatacagt gtacgtaaac tacaccatcc tcaaaccccg gaaagcaaag caaatcagga agaaaagtgg aggttag. It is sometimes possible for the material contained within the vial of "ALG9, 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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