ALG2
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Alpha-1,3/1,6-mannosyltransferase ALG2 is an
enzyme Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. A ...
that is encoded by the ''ALG2''
gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
. Mutations in the human gene are associated with congenital defects in glycosylation The protein encoded by the ALG2 gene belongs to two classes of enzymes: GDP-Man:Man1GlcNAc2-PP-dolichol alpha-1,3-mannosyltransferase () and GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase ().


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).


Interactions

ALG2 has been shown to
interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with
ANXA7 Annexin A7 is a protein that in humans is encoded by the ''ANXA7'' gene. Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins. The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA ...
and
ANXA11 Annexin A11 is a protein that in humans is encoded by the ''ANXA11'' gene. Function This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conse ...
.


References


Further reading

* * * NB ALG-2 is NOT the protein product of the ALG2 gene. * NB ALG-2 is NOT the protein product of the ALG2 gene. * * NB ALG-2 is NOT the protein product of the ALG2 gene. * NB ALG-2 is NOT the protein product of the ALG2 gene. * * NB ALG-2 is NOT the protein product of the ALG2 gene.


External links


GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview
* {{gene-9-stub