🧬 基因注释：HEXB

官方名称：hexosaminidase subunit beta

功能摘要：Hexosaminidase B is the beta 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. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014].

• HNRNPC 综合评分: 0.412 · 证据 2 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• HNRNPM 综合评分: 0.350 · 证据 2 条
• KHSRP 综合评分: 0.300 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• SRSF3 综合评分: 0.300 · 证据 1 条
• SRSF9 综合评分: 0.300 · 证据 1 条
• Srsf3 综合评分: 0.300 · 证据 1 条
• Mbnl2 综合评分: 0.298 · 证据 1 条
• Ptbp2 综合评分: 0.298 · 证据 1 条
• Rnps1 综合评分: 0.286 · 证据 1 条
• Nova2 综合评分: 0.262 · 证据 1 条
• PRPF8 综合评分: 0.262 · 证据 1 条
• RBM10 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• Srsf4 综合评分: 0.248 · 证据 1 条
• NXF1 综合评分: 0.224 · 证据 1 条
• CPSF6 综合评分: 0.212 · 证据 2 条
• Srsf1 综合评分: 0.212 · 证据 1 条

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