🧬 基因注释：SCARB2
官方名称：scavenger receptor class B member 2
功能摘要：The protein encoded by this gene is a type III glycoprotein that is located primarily in limiting membranes of lysosomes and endosomes. Earlier studies in mice and rat suggested that this protein may participate in membrane transportation and the reorganization of endosomal/lysosomal compartment. The protein deficiency in mice was reported to impair cell membrane transport processes and cause pelvic junction obstruction, deafness, and peripheral neuropathy. Further studies in human showed that this protein is a ubiquitously expressed protein and that it is involved in the pathogenesis of HFMD (hand, foot, and mouth disease) caused by enterovirus-71 and possibly by coxsackievirus A16. Mutations in this gene caused an autosomal recessive progressive myoclonic epilepsy-4 (EPM4), also known as action myoclonus-renal failure syndrome (AMRF). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011].
- FUS 综合评分: 0.486 · 证据 1 条
- fus 综合评分: 0.486 · 证据 1 条
- RBFOX2 综合评分: 0.474 · 证据 2 条
- HNRNPM 综合评分: 0.412 · 证据 2 条
- MBNL2 综合评分: 0.406 · 证据 1 条
- Tardbp 综合评分: 0.386 · 证据 1 条
- HNRNPU 综合评分: 0.362 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- QKI 综合评分: 0.350 · 证据 1 条
- ELAVL3 综合评分: 0.322 · 证据 1 条
- EWSR1 综合评分: 0.312 · 证据 2 条
- HNRNPL 综合评分: 0.300 · 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
- 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
- UPF1 综合评分: 0.296 · 证据 1 条
该基因暂无关联疾病记录