Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: MQSLMQAPL LIALGLLLAA PAQAHLKKPS QLSSFSWDNC DEGKDPAVIR SLTLEPDPIV VPGNVTLSVV GSTSVPLSSP LKVDLVLEKE VAGLWIKIPC TDYIGSCTFE HFCDVLDMLI PTGEPCPEPL RTYGLPCHCP FKEGTYSLPK SEFVVPDLEL PSWLTTGNYR IESVLSSSGK RLGCIKIAAS LKGI (1-193 aa encoded by BC009273)
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.
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Protein Aliases: Cerebroside sulfate activator protein; Ganglioside GM2 activator; GM2-AP; SAP-3; shingolipid activator protein 3; Sphingolipid activator protein 3
Gene Aliases: GM2-AP; GM2A; SAP-3
UniProt ID: (Human) P17900
Entrez Gene ID: (Human) 2760
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