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Immunogen sequence: HLKKPSQLSS FSWDNCDEGK DPAVIRSLTL EPDPIIVPGN VTLSVMGSTS VPLSSPLKVD LVLEKEVAGL WIKIPCTDYI GSCTFEHFCD VLDMLIPTGE PCPEPLRTYG LPCHCPFKEG TYSLPKSEFV VPDLELPSWL TTGNYRIESV LSSSGKRLGC IKIAASLKGI
This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants.
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: Cerebroside sulfate activator protein; Ganglioside GM2 activator; GM2 ganglioside activator protein; GM2-AP; SAP-3; shingolipid activator protein 3; Sphingolipid activator protein 3
基因别名: AA408702; AW215435; GM2-AP; Gm2a; SAP-3
UniProt ID: (Mouse) Q60648
Entrez Gene ID: (Mouse) 14667, (Rat) 282838