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Transcription
Function
This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii).[6]
^ abSatoh H, Nakano Y, Shibata H, Maki M (November 2002). "The penta-EF-hand domain of ALG-2 interacts with amino-terminal domains of both annexin VII and annexin XI in a Ca2+-dependent manner". Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics. 1600 (1–2): 61–7. doi:10.1016/S1570-9639(02)00445-4. PMID12445460.
Jaeken J, Carchon H (August 2004). "Congenital disorders of glycosylation: a booming chapter of pediatrics". Current Opinion in Pediatrics. 16 (4): 434–9. doi:10.1097/01.mop.0000133636.56790.4a. PMID15273506.
Satoh H, Shibata H, Nakano Y, Kitaura Y, Maki M (March 2002). "ALG-2 interacts with the amino-terminal domain of annexin XI in a Ca(2+)-dependent manner". Biochemical and Biophysical Research Communications. 291 (5): 1166–72. doi:10.1006/bbrc.2002.6600. PMID11883939. NB ALG-2 is NOT the protein product of the ALG2 gene.
Satoh H, Nakano Y, Shibata H, Maki M (November 2002). "The penta-EF-hand domain of ALG-2 interacts with amino-terminal domains of both annexin VII and annexin XI in a Ca2+-dependent manner". Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics. 1600 (1–2): 61–7. doi:10.1016/S1570-9639(02)00445-4. PMID12445460. NB ALG-2 is NOT the protein product of the ALG2 gene.
Hansen C, Tarabykina S, la Cour JM, Lollike K, Berchtold MW (June 2003). "The PEF family proteins sorcin and grancalcin interact in vivo and in vitro". FEBS Letters. 545 (2–3): 151–4. doi:10.1016/S0014-5793(03)00518-0. PMID12804766. S2CID42572647.
Shibata H, Yamada K, Mizuno T, Yorikawa C, Takahashi H, Satoh H, Kitaura Y, Maki M (January 2004). "The penta-EF-hand protein ALG-2 interacts with a region containing PxY repeats in Alix/AIP1, which is required for the subcellular punctate distribution of the amino-terminal truncation form of Alix/AIP1". Journal of Biochemistry. 135 (1): 117–28. doi:10.1093/jb/mvh014. PMID14999017. NB ALG-2 is NOT the protein product of the ALG2 gene.
This page was last edited on 18 August 2023, at 09:57