🧬 基因注释：SLC52A2

官方名称：solute carrier family 52 member 2

功能摘要：This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. [provided by RefSeq, Jul 2012].

• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• HNRNPC 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
• PTBP1 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• SRSF9 综合评分: 0.300 · 证据 1 条
• fus 综合评分: 0.300 · 证据 1 条
• U2af1 综合评分: 0.274 · 证据 1 条
• RBM15 综合评分: 0.250 · 证据 2 条
• TIA1 综合评分: 0.250 · 证据 1 条
• YBX1 综合评分: 0.244 · 证据 1 条
• U2af2 综合评分: 0.224 · 证据 1 条
• GRSF1 综合评分: 0.212 · 证据 2 条
• PRPF8 综合评分: 0.200 · 证据 1 条
• NXF1 综合评分: 0.162 · 证据 1 条
• Snrpa 综合评分: 0.162 · 证据 1 条
• UPF1 综合评分: 0.162 · 证据 1 条
• MSI1 综合评分: 0.150 · 证据 1 条

该基因暂无关联疾病记录