基因注释：PEX7

官方名称：peroxisomal biogenesis factor 7

功能摘要：This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008].

• RBFOX2 综合评分: 0.398 · 证据 2 条
• HNRNPC 综合评分: 0.350 · 证据 2 条
• Tardbp 综合评分: 0.310 · 证据 1 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• FUBP1 综合评分: 0.250 · 证据 2 条
• RBM10 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• CSTF2 综合评分: 0.212 · 证据 2 条
• Ptbp2 综合评分: 0.200 · 证据 1 条
• CPSF4 综合评分: 0.150 · 证据 2 条
• Srsf3 综合评分: 0.150 · 证据 1 条
• Srsf4 综合评分: 0.150 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条
• CPSF2 综合评分: 0.100 · 证据 1 条
• CSTF2T 综合评分: 0.100 · 证据 2 条
• NXF1 综合评分: 0.100 · 证据 1 条
• Rbm7 综合评分: 0.100 · 证据 1 条
• Rbmx 综合评分: 0.100 · 证据 1 条
• U2af2 综合评分: 0.100 · 证据 1 条
• UPF1 综合评分: 0.100 · 证据 1 条

该基因暂无关联疾病记录