🧬 基因注释：PEX12
官方名称：peroxisomal biogenesis factor 12
功能摘要：This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 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 are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008].
- Tardbp 综合评分: 0.324 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- Srsf2 综合评分: 0.212 · 证据 1 条
- U2af1 综合评分: 0.212 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- Rbm7 综合评分: 0.198 · 证据 1 条
- Rbpms 综合评分: 0.162 · 证据 1 条
- Rnps1 综合评分: 0.162 · 证据 1 条
- Srsf7 综合评分: 0.162 · 证据 1 条
- CPSF6 综合评分: 0.150 · 证据 2 条
- CSTF2 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
- CSTF2T 综合评分: 0.100 · 证据 2 条
- NXF1 综合评分: 0.100 · 证据 1 条
- Rbmx 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