🧬 基因注释：PSAP

官方名称：prosaposin

功能摘要：This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016].

• HNRNPC 综合评分: 0.546 · 证据 2 条
• Tardbp 综合评分: 0.533 · 证据 1 条
• FUS 综合评分: 0.529 · 证据 1 条
• fus 综合评分: 0.529 · 证据 1 条
• PTBP1 综合评分: 0.444 · 证据 2 条
• RBFOX2 综合评分: 0.444 · 证据 2 条
• MBNL2 综合评分: 0.442 · 证据 1 条
• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• HNRNPH1 综合评分: 0.412 · 证据 2 条
• QKI 综合评分: 0.412 · 证据 1 条
• CELF2 综合评分: 0.398 · 证据 2 条
• TIA1 综合评分: 0.374 · 证据 1 条
• HNRNPA1 综合评分: 0.350 · 证据 2 条
• HNRNPM 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• EWSR1 综合评分: 0.348 · 证据 2 条
• ELAVL3 综合评分: 0.348 · 证据 1 条
• PCBP2 综合评分: 0.344 · 证据 1 条
• PRPF8 综合评分: 0.324 · 证据 1 条
• UPF1 综合评分: 0.314 · 证据 1 条

该基因暂无关联疾病记录