ALG3
ALG3 | |||
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Identifiers | |||
Gene ontology | |||
Molecular function | |||
Cellular component | |||
Biological process | |||
Sources:Amigo / QuickGO |
Ensembl | |||||||||
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UniProt | |||||||||
RefSeq (mRNA) | |||||||||
RefSeq (protein) | |||||||||
Location (UCSC) | Chr 3: 184.24 – 184.25 Mb | Chr 16: 20.42 – 20.43 Mb | |||||||
PubMed search | [3] | [4] |
View/Edit Human | View/Edit Mouse |
Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase is an enzyme that, in humans, is encoded by the ALG3 gene.[5][6]
This gene encodes a member of the ALG3 family. The encoded
N-glycosylation.[6]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000214160 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033809 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 1058125.
- ^ a b "Entrez Gene: ALG3 asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)".
Further reading
- Jaeken J (2005). "Congenital disorders of glycosylation (CDG): update and new developments". J. Inherit. Metab. Dis. 27 (3): 423–6. S2CID 7608163.
- Jaeken J, Carchon H (2004). "Congenital disorders of glycosylation: a booming chapter of pediatrics". Curr. Opin. Pediatr. 16 (4): 434–9. PMID 15273506.
- Stibler H, Stephani U, Kutsch U (1996). "Carbohydrate-deficient glycoprotein syndrome--a fourth subtype". Neuropediatrics. 26 (5): 235–7. S2CID 2733984.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMID 12477932.
- Denecke J, Kranz C, Kemming D, et al. (2004). "An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)". Hum. Mutat. 23 (5): 477–86. S2CID 20639317.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. PMID 15489334.
- Denecke J, Kranz C, von Kleist-Retzow JCh, et al. (2005). "Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins". Pediatr. Res. 58 (2): 248–53. PMID 16006436.
External links
- GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview
- ALG3 human gene location in the UCSC Genome Browser.
- ALG3 human gene details in the UCSC Genome Browser.