| Tbio | Alpha-1,2-mannosyltransferase ALG9 |
Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides.
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]
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]
Comments
| Disease | log2 FC | p |
|---|---|---|
| osteosarcoma | -2.102 | 0.000 |
| pancreatic ductal adenocarcinoma liver m... | -1.083 | 0.025 |
| group 3 medulloblastoma | 1.200 | 0.001 |
| subependymal giant cell astrocytoma | -1.068 | 0.015 |
| invasive ductal carcinoma | -1.100 | 0.012 |
| ovarian cancer | -1.800 | 0.000 |
| PMID | Text |
|---|---|
| 25966638 | Our study shows that some pathogenic variants in ALG9 can present as a lethal skeletal dysplasia with visceral malformations as the most severe phenotype |
| 19451548 | Due to the ALG9 deficiency, cells accumulated the lipid-linked oligosaccharides Man(6)GlcNAc(2)-PP-dolichol and Man(8)GlcNAc(2)-PP-dolichol. |
| 16859551 | Observational study of gene-disease association. (HuGE Navigator) |
MASRGARQRLKGSGASSGDTAPAADKLRELLGSREAGGAEHRTELSGNKAGQVWAPEGSTAFKCLLSARL 1 - 70 CAALLSNISDCDETFNYWEPTHYLIYGEGFQTWEYSPAYAIRSYAYLLLHAWPAAFHARILQTNKILVFY 71 - 140 FLRCLLAFVSCICELYFYKAVCKKFGLHVSRMMLAFLVLSTGMFCSSSAFLPSSFCMYTTLIAMTGWYMD 141 - 210 KTSIAVLGVAAGAILGWPFSAALGLPIAFDLLVMKHRWKSFFHWSLMALILFLVPVVVIDSYYYGKLVIA 211 - 280 PLNIVLYNVFTPHGPDLYGTEPWYFYLINGFLNFNVAFALALLVLPLTSLMEYLLQRFHVQNLGHPYWLT 281 - 350 LAPMYIWFIIFFIQPHKEERFLFPVYPLICLCGAVALSALQKCYHFVFQRYRLEHYTVTSNWLALGTVFL 351 - 420 FGLLSFSRSVALFRGYHGPLDLYPEFYRIATDPTIHTVPEGRPVNVCVGKEWYRFPSSFLLPDNWQLQFI 421 - 490 PSEFRGQLPKPFAEGPLATRIVPTDMNDQNLEEPSRYIDISKCHYLVDLDTMRETPREPKYSSNKEEWIS 491 - 560 LAYRPFLDASRSSKLLRAFYVPFLSDQYTVYVNYTILKPRKAKQIRKKSGG 561 - 611 //
| PMID | Year | Title |
|---|---|---|
| 26871637 | 2016 | Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. |
| 25966638 | 2016 | A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. |
| 19946888 | 2010 | Defining the membrane proteome of NK cells. |
| 19451548 | 2009 | Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient. |
| 16859551 | 2006 | Common variations in ALG9 are not associated with bipolar I disorder: a family-based study. |
| 16381901 | 2006 | The LIFEdb database in 2006. |
| 16344560 | 2006 | Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |
| 15945070 | 2005 | CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. |
| 15489336 | 2004 | From ORFeome to biology: a functional genomics pipeline. |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
| More... |
