Description
Key facts
Cell type:HEK-293T,
Species or organism:Human,
Tissue:Kidney,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, Homozygous: 5 bp deletion in exon 2
Product details:
We will provide viable cells that proliferate on revival.
This product is subject to limited use licenses from The Broad Institute and ERS Genomics Limited, and is developed with patented technology. For full details of the limited use licenses and relevant patents please refer to our
limited use license
patent pages
Properties and Storage Information:
Gene name-COLGALT1, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Zygosity-Homozygous, Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--196°C, Appropriate long-term storage conditions--196°C
Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
GLT25D1 also known as collagen galactosyltransferase 1 is an enzyme involved in collagen biosynthesis. It has a mass of approximately 80 kDa. This enzyme catalyzes the transfer of galactose to hydroxylysine residues in collagen and collagen-like proteins. GLT25D1 is expressed in various tissues with the highest expression in fibroblasts skin and cartilage where collagen synthesis is active. Its function is essential for the proper maturation and stability of collagen fibers.
Biological function summary
GLT25D1 plays a significant role in the post-translational modification of collagen. It participates in forming the galactosylhydroxylysine residues which are important for collagen's structural integrity and function. The enzyme may function as part of a multiprotein complex which ensures efficient modification of the collagen fibers during their biosynthesis. Through these modifications the enzyme affects the fibrillar assembly that is essential for connective tissue strength and elasticity.
Pathways
The role of GLT25D1 is prominent in the collagen synthesis pathway. This pathway involves not only the synthesis of collagen polypeptides but also their modification folding and secretion. The GLT25D1 enzyme works in conjunction with other glycosyltransferases like galactosyltransferase 2 (GLT25D2) to ensure collagen molecules are properly glycosylated and transported through the secretory pathway. These enzymes together regulate the mechanical properties of the extracellular matrix which is important for tissue function.
GLT25D1 is linked to connective tissue disorders. Mutations or dysregulation of GLT25D1 can contribute to conditions like Ehlers-Danlos Syndrome a disorder characterized by hyperflexibility and fragile skin due to defective collagen. Furthermore the enzyme's interaction with collagens can influence the progression of fibrotic diseases where excessive collagen deposition causes tissue damage. Understanding GLT25D1's function and regulation provides insight into therapeutic approaches for these types of diseases.
