🧬 基因注释：ABCA1

官方名称：ATP binding cassette subfamily A member 1

功能摘要：The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019].

• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• HNRNPK 综合评分: 0.362 · 证据 2 条
• HNRNPL 综合评分: 0.362 · 证据 2 条
• HNRNPA1 综合评分: 0.350 · 证据 2 条
• HNRNPC 综合评分: 0.350 · 证据 2 条
• HNRNPH1 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
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• KHSRP 综合评分: 0.300 · 证据 2 条
• RBFOX2 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
• fus 综合评分: 0.300 · 证据 1 条
• NOVA1 综合评分: 0.298 · 证据 2 条
• PCBP2 综合评分: 0.262 · 证据 1 条
• Ptbp2 综合评分: 0.262 · 证据 1 条
• SF3A3 综合评分: 0.262 · 证据 1 条
• TIA1 综合评分: 0.250 · 证据 1 条

该基因暂无关联疾病记录