Search Thermo Fisher Scientific
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: GM2-AP; GM2A; SAP-3
UniProt ID: (Human) P17900
Entrez Gene ID: (Human) 2760, (Rat) 282838