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Proteintech
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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).
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: beta-hexosaminidase; beta-hexosaminidase alpha-subunit; Beta-hexosaminidase subunit alpha; Beta-N-acetylhexosaminidase subunit alpha; EC 3.2.1; EC 3.2.1.52; glycosidase; HEXA; hexosaminidase A (alpha polypeptide); hexosaminidase A (alpha polypeptide) isoform HEXA_1; hexosaminidase A (alpha polypeptide) isoform HEXA_2; hexosaminidase A (alpha polypeptide) isoform HEXA_3; hexosaminidase A (alpha polypeptide) isoform HEXA_4; hexosaminidase A (alpha polypeptide) isoform HEXA_5; Hexosaminidase subunit A; Hexose aminidase A (alpha polypeptide); MGC99608; N-acetyl-alpha-glucosaminidase prepro-polypeptide; N-acetyl-beta-glucosaminidase subunit alpha; Unknown; unnamed protein product
基因别名: Hex-1; HEXA; TSD
UniProt ID: (Human) P06865, (Mouse) P29416, (Rat) Q641X3
Entrez Gene ID: (Rabbit) 100008950, (Human) 3073, (Mouse) 15211, (Rat) 300757