C1GALT1
In today's world, C1GALT1 has become a topic of great relevance and interest to many people. Throughout history, C1GALT1 has played a crucial role in numerous aspects of society, culture, and everyday life. From its impact on the economy to its influence on politics and technology, C1GALT1 remains a topic of constant debate and reflection. In this article, we will explore the importance and impact of C1GALT1 in different contexts, as well as current and future trends related to this topic.
| core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | C1GALT1 | ||||||
| NCBI gene | 56913 | ||||||
| HGNC | 24337 | ||||||
| OMIM | 610555 | ||||||
| RefSeq | NM_020156 | ||||||
| UniProt | Q9NS00 | ||||||
| Other data | |||||||
| EC number | 2.4.1.122 | ||||||
| Locus | Chr. 7 p21.3 | ||||||
| |||||||
Core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1, also known as C1GALT1, is an enzyme which in humans is encoded by the C1GALT1 gene.[1][2]
Function
The common core 1 O-glycan structure Gal-beta-1-3GalNAc-R is a precursor for many extended mucin-type O-glycan structures in animal cell surface and secreted glycoproteins. Core 1 is synthesized by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R by core 1 beta-3-galactosyltransferase (C1GALT1).[2]
C1GALT1 is associated with the T-Tn antigen system.[3]
Clinical significance
There is some evidence that mutations in the C1GALT1 gene may be associated with kidney disease.[4]
See also
References
- ^ Amado M, Almeida R, Schwientek T, Clausen H (December 1999). "Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions". Biochim. Biophys. Acta. 1473 (1): 35–53. doi:10.1016/S0304-4165(99)00168-3. PMID 10580128.
- ^ a b Ju T, Brewer K, D'Souza A, Cummings RD, Canfield WM (January 2002). "Cloning and expression of human core 1 beta1,3-galactosyltransferase". J. Biol. Chem. 277 (1): 178–86. doi:10.1074/jbc.M109060200. PMID 11677243.
- ^ "BGMUT Blood Group Antigen Gene Mutation Database". Retrieved 2011-07-16.
- ^ Alexander WS, Viney EM, Zhang JG, et al. (October 2006). "Thrombocytopenia and kidney disease in mice with a mutation in the C1galt1 gene". Proc. Natl. Acad. Sci. U.S.A. 103 (44): 16442–7. Bibcode:2006PNAS..10316442A. doi:10.1073/pnas.0607872103. PMC 1637601. PMID 17062753.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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