POMT1

Protein O-mannosyltransferase 1
Identifikatori
Alijasi
Spoljašnji ID	GeneCards: [1]
Ortolozi
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	Wikidata
View/Edit Human

Protein O-manozil-transferaza 1 je enzim koji je kod ljudi kodiran genom POMT1.^[1]^[2] On je član dolihil-fosfat-manoza-protein manoziltransferaza.

Reference

^ Jurado LA, Coloma A, Cruces J (јун 1999). „Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1”. Genomics. 58 (2): 171—80. PMID 10366449. doi:10.1006/geno.1999.5819.
^ „Entrez Gene: POMT1 protein-O-mannosyltransferase 1”.

Literatura

Grewal PK, Hewitt JE (октобар 2003). „Glycosylation defects: a new mechanism for muscular dystrophy?”. Human Molecular Genetics. 12 Spec No 2 (90002): R259—64. PMID 12925572. doi:10.1093/hmg/ddg272  .
Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, et al. (новембар 2002). „Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome”. American Journal of Human Genetics. 71 (5): 1033—43. PMC 419999  . PMID 12369018. doi:10.1086/342975.
Sabatelli P, Columbaro M, Mura I, Capanni C, Lattanzi G, Maraldi NM, et al. (мај 2003). „Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation”. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1638 (1): 57—62. PMID 12757935. doi:10.1016/s0925-4439(03)00040-1  .
Manya H, Chiba A, Yoshida A, Wang X, Chiba Y, Jigami Y, et al. (јануар 2004). „Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity”. Proceedings of the National Academy of Sciences of the United States of America. 101 (2): 500—5. Bibcode:2004PNAS..101..500M. PMC 327176  . PMID 14699049. doi:10.1073/pnas.0307228101  .
Kim DS, Hayashi YK, Matsumoto H, Ogawa M, Noguchi S, Murakami N, et al. (март 2004). „POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG”. Neurology. 62 (6): 1009—11. PMID 15037715. S2CID 28864658. doi:10.1212/01.wnl.0000115386.28769.65.
Akasaka-Manya K, Manya H, Endo T (децембар 2004). „Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation”. Biochemical and Biophysical Research Communications. 325 (1): 75—9. PMID 15522202. doi:10.1016/j.bbrc.2004.10.001.
Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, et al. (фебруар 2005). „Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome”. American Journal of Medical Genetics. Part A. 133A (1): 53—7. PMID 15637732. S2CID 16549086. doi:10.1002/ajmg.a.30487.
Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, et al. (април 2005). „An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene”. Neuromuscular Disorders. 15 (4): 271—5. PMID 15792865. S2CID 23007648. doi:10.1016/j.nmd.2005.01.013.
Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, et al. (2007). „Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries”. DNA Research. 12 (2): 117—26. PMID 16303743. doi:10.1093/dnares/12.2.117  .
Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (јануар 2006). „Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes”. Genome Research. 16 (1): 55—65. PMC 1356129  . PMID 16344560. doi:10.1101/gr.4039406.
Akasaka-Manya K, Manya H, Nakajima A, Kawakita M, Endo T (јул 2006). „Physical and functional association of human protein O-mannosyltransferases 1 and 2”. The Journal of Biological Chemistry. 281 (28): 19339—45. PMID 16698797. doi:10.1074/jbc.M601091200  .
Bouchet C, Vuillaumier-Barrot S, Gonzales M, Boukari S, Bizec CL, Fallet C, et al. (јануар 2007). „Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families”. Molecular Genetics and Metabolism. 90 (1): 93—6. PMID 17079174. doi:10.1016/j.ymgme.2006.09.005.

Spoljašnje veze

[pmid10366449-1] Jurado LA, Coloma A, Cruces J (јун 1999). „Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1”. Genomics. 58 (2): 171—80. PMID 10366449. doi:10.1006/geno.1999.5819.

[entrez-2] „Entrez Gene: POMT1 protein-O-mannosyltransferase 1”.

[1]

[2]