GENE NAME | HEXB |
CHROMOSOME | 5 |
ENSEMBL ID | ENSG00000049860 |
ENTREZ ID | 3074 |
UNIPROT ACCESSION NUMBER | P07686 |
GO MOLECULAR FUNCTION | beta-N-acetylhexosaminidase activity; N-acetyl-beta-D-galactosaminidase activity; hydrolase activity, hydrolyzing O-glycosyl compounds; hydrolase activity; hydrolase activity, acting on glycosyl bonds; identical protein binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-428157; hsa00513; R-HSA-1660662; R-HSA-2022857; R-HSA-71387; R-HSA-1430728; hsa00520; hsa04142; R-HSA-1630316; hsa00531; R-HSA-168256; hsa00603; R-HSA-5668914; hsa00604; R-HSA-2142845; R-HSA-2160916; R-HSA-168249; hsa00511; R-HSA-1643685; R-HSA-3781865; hsa00511; R-HSA-556833; R-HSA-6798695; hsa00604; hsa00603; R-HSA-2024101; hsa00531; hsa04142; hsa00520; R-HSA-1638074; R-HSA-1793185; R-HSA-3656248; hsa00513; hsa01100; hsa01100; R-HSA-3560782 |
1 combination linked to HEXB | OLI331 |
1 variant linked to HEXB | HEXB:c.214C>T, p.Leu72Phe |
1 disease linked to HEXB | Amyotrophic lateral sclerosis |