Beta-1,4-galactosyltransferase 1
The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also be responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.
Processed beta-1,4-galactosyltransferase 1
The cell surface form functions as a recognition molecule during a variety of cell to cell and cell to matrix interactions, as those occurring during development and egg fertilization, by binding to specific oligosaccharide ligands on opposing cells or in the extracellular matrix.
Congenital disorder of glycosylation 2D
CDG2D
A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
None
The disease is caused by variants affecting the gene represented in this entry.
Combined low LDL and fibrinogen
CLDLFIB
An autosomal recessive condition characterized by low plasma LDL-cholesterol and fibrinogen levels, and associated with a decreased risk of coronary artery disease.
None
Disease susceptibility may be associated with variants affecting the gene represented in this entry.
Protein modification; protein glycosylation.
The soluble form derives from the membrane forms by proteolytic processing.
Belongs to the glycosyltransferase 7 family.
Ubiquitously expressed, but at very low levels in fetal and adult brain.
GGTB2, B4GALT1, Beta4Gal-T1, b4Gal-T1, Lactose synthase A protein, N-acetyllactosamine synthase, Nal synthase
Proteins
Immunology & Infectious Disease
43920Da
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ab121326