Logo
full name
beta-1,3-galactosyltransferase 6

synonyms
beta3GalT6, B3GALT6, ENSG00000176022

HGNC
HGNC:17978

Entrez Gene
Gene:126792

ENSEMBL
ENSG00000176022

location
chr: 1
start: 1167629
stop: 1170421
strand: +

OMIM
OMIM:615291: B3GALT6 (Autosomal recessive inheritance)
OMIM:615349: Ehlers-Danlos syndrome, spondylodysplastic type, 2
OMIM:271640: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

transcripts
NM_080605.3

pathways
A tetrasaccharide linker sequence is required for GAG synthesis [NCBI:1269981] [REACTOME:R-HSA-1971475] [PUBMED:4139221] [PUBMED:17239764]
Chondroitin sulfate/dermatan sulfate metabolism [NCBI:1269984] [REACTOME:R-HSA-1793185] [PUBMED:12512856] [PUBMED:12213784] [PUBMED:17239764]
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate [NCBI:82982] [KEGG:hsa00532] [PUBMED:12847091] [PUBMED:22899863] [PUBMED:19661164] [PUBMED:11551958] [PUBMED:11274177] [PUBMED:17253960] [PUBMED:14568616] [PUBMED:12716890] [PUBMED:9506957] [PUBMED:11042448] [PUBMED:17239763] [PUBMED:21138417] [PUBMED:17928217] [PUBMED:10473568] [PUBMED:12512856] [PUBMED:11099377]
Glycosaminoglycan biosynthesis - heparan sulfate / heparin [NCBI:82984] [KEGG:hsa00534] [PUBMED:10742590] [PUBMED:11390981] [PUBMED:10520990] [PUBMED:9151776] [PUBMED:16099108] [PUBMED:11274177] [PUBMED:9988768] [PUBMED:10318803] [PUBMED:15304505] [PUBMED:9756849]
Glycosaminoglycan biosynthesis, linkage tetrasaccharide [NCBI:413363] [KEGG:hsa_M00057]
Glycosaminoglycan metabolism [NCBI:1269972] [REACTOME:R-HSA-1630316] [PUBMED:18201392] [PUBMED:20301236] [PUBMED:820626]
Heparan sulfate/heparin (HS-GAG) metabolism [NCBI:1269980] [REACTOME:R-HSA-1638091] [PUBMED:11102866] [PUBMED:19111581] [PUBMED:10716625] [PUBMED:9251237]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of carbohydrates [NCBI:1269957] [REACTOME:R-HSA-71387]