🧬 基因注释：SLC22A5

官方名称：solute carrier family 22 member 5

功能摘要：Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015].

• RBFOX2 综合评分: 0.460 · 证据 2 条
• HNRNPH1 综合评分: 0.412 · 证据 2 条
• Tardbp 综合评分: 0.379 · 证据 1 条
• HNRNPK 综合评分: 0.362 · 证据 2 条
• HNRNPA1 综合评分: 0.350 · 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
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• fus 综合评分: 0.300 · 证据 1 条
• PRPF8 综合评分: 0.298 · 证据 1 条
• EWSR1 综合评分: 0.250 · 证据 2 条
• FUBP1 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• CSTF2 综合评分: 0.248 · 证据 2 条
• U2af1 综合评分: 0.212 · 证据 1 条
• MBNL2 综合评分: 0.200 · 证据 1 条
• PCBP2 综合评分: 0.200 · 证据 1 条
• Ptbp2 综合评分: 0.200 · 证据 1 条

该基因暂无关联疾病记录