🧬 基因注释：MBTPS1

官方名称：membrane bound transcription factor peptidase, site 1

功能摘要：This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014].

• HNRNPM 综合评分: 0.474 · 证据 2 条
• HNRNPC 综合评分: 0.448 · 证据 2 条
• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• CELF2 综合评分: 0.336 · 证据 2 条
• FUBP1 综合评分: 0.312 · 证据 2 条
• RBM10 综合评分: 0.312 · 证据 2 条
• TIA1 综合评分: 0.312 · 证据 1 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPK 综合评分: 0.300 · 证据 2 条
• HNRNPL 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
• SRSF9 综合评分: 0.300 · 证据 1 条
• fus 综合评分: 0.300 · 证据 1 条
• ELAVL3 综合评分: 0.274 · 证据 1 条
• U2af2 综合评分: 0.274 · 证据 1 条
• NOVA1 综合评分: 0.262 · 证据 2 条
• Nova2 综合评分: 0.262 · 证据 1 条
• PRPF8 综合评分: 0.262 · 证据 1 条

该基因暂无关联疾病记录