Gene Name	B4GALT7
Gene ID	11285
Gene Full Name	beta-1,4-galactosyltransferase 7
Gene Alias	EDSP1|EDSSLA|EDSSPD1|XGALT1|XGPT|XGPT1
Transcripts	ENSG00000027847
Virus	CCHFV
Gene Type	protein-coding
HPA Location Info
Membrane Info	Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Uniport_ID	Q9UBV7
HGNC ID	HGNC:930
OMIM ID	604327
Summary	This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009]

Mutation Table: if previous studies reported that target gene was related to virus gene/region/protein, the information in this literature was listed in this section

ID	PMID	Mutation	Gene/Protein/Region	Encoding Gene/Protein	Disease	Description	Detail
1	40539243	R516K	preGn	M	Cell line	T	View

Data ID	Experiment type	Sample number	Platform
GSE133086	RNA-seq	24	Illumina HiSeq 4000 (Homo sapiens)