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Immunogen sequence: MTSSRLWFS LLLAAAFAGR ATALWPWPQN FQTSDQRYVL YPNNFQFQYD VSSAAQPGCS VLDEAFQRYR DLLFGSGSWP RPYLTGKRHT LEKNVLVVSV VTPGCNQLPT LESVENYTLT INDDQCLLLS ETVWGALRGL ETFSQLVWKS AEGTFFINKT EIEDFPRFPH RGLLLDTSRH YLPLSSILDT LDVMAYNKLN VFHWHLVDDP SFPYESFTFP ELMRKGSYNP VTHIYTAQDV KEVIEYARLR GIRVLAEFDT PGHTLSWGPG IPGLLTPCYS GSEPSGTFGP VNPSLNNTYE FMSTFFLEVS SVFPDFYLHL GGDEVDFTCW KSNPEIQDFM RKKGFGEDFK QLESFYIQTL LDIVSSYGKG YVVWQEVFDN KVKIQPDTII QVWREDIPVN YMKELELVTK AGFRALLSAP WYLNRISYGP DWKDFYVVEP LAFEGTPEQK ALVIGGEACM WGEYVDNTNL VPRLWPRAGA VAERLWSNKL TSDLTFAYER LSHFRCELLR RGVQAQPLNV GFCEQEFEQT (1-529 aa encoded by BC018927)
This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I).
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: beta-hexosaminidase alpha-subunit; Beta-hexosaminidase subunit alpha; Beta-N-acetylhexosaminidase subunit alpha; EC 3.2.1; EC 3.2.1.52; hexosaminidase A (alpha polypeptide); Hexosaminidase subunit A; Hexose aminidase A (alpha polypeptide); MGC99608; N-acetyl-beta-glucosaminidase subunit alpha
Gene Aliases: Hex-1; HEXA; TSD
UniProt ID: (Human) P06865, (Mouse) P29416, (Rat) Q641X3
Entrez Gene ID: (Rabbit) 100008950, (Human) 3073, (Mouse) 15211, (Rat) 300757
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