🧬 基因注释:SLC46A1
官方名称:solute carrier family 46 member 1
功能摘要:This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013].
- HNRNPA2B1 综合评分: 0.412 · 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
- SRSF3 综合评分: 0.300 · 证据 1 条
- PCBP2 综合评分: 0.262 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- PRPF4 综合评分: 0.212 · 证据 1 条
- Rbmx 综合评分: 0.198 · 证据 1 条
- NXF1 综合评分: 0.162 · 证据 1 条
- Rbpms 综合评分: 0.162 · 证据 1 条
- U2af2 综合评分: 0.162 · 证据 1 条
- AQR 综合评分: 0.150 · 证据 1 条
- CPSF6 综合评分: 0.150 · 证据 2 条
- CPSF7 综合评分: 0.150 · 证据 2 条
- CSTF2 综合评分: 0.150 · 证据 2 条
- GRSF1 综合评分: 0.150 · 证据 2 条
- MSI1 综合评分: 0.150 · 证据 1 条
- Tardbp 综合评分: 0.150 · 证据 1 条
该基因暂无关联疾病记录