🧬 基因注释：NALCN

官方名称：sodium leak channel, non-selective

功能摘要：This gene encodes a voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitability of neurons. This family is expressed throughout the nervous system and conducts a persistent sodium leak current that contributes to tonic neuronal excitability. The encoded protein forms a channelosome complex that includes G-protein-coupled receptors, UNC-79, UNC-80, NCA localization factor-1, and src family tyrosine kinases. Naturally occurring mutations in this gene are associated with infantile neuroaxonal dystrophy, infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) syndrome, and congenital contractures of the limbs and face with hypotonia and developmental delay (CLIFAHDD) syndrome. A knockout of the orthologous gene in mice results in paralysis with a severely disrupted respiratory rhythm, and lethality within 24 hours after birth. [provided by RefSeq, Apr 2017].

• QKI 综合评分: 0.350 · 证据 1 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• fus 综合评分: 0.300 · 证据 1 条
• MBNL2 综合评分: 0.262 · 证据 1 条
• EWSR1 综合评分: 0.250 · 证据 2 条
• RBM10 综合评分: 0.250 · 证据 2 条
• Nova2 综合评分: 0.200 · 证据 1 条
• Ptbp2 综合评分: 0.200 · 证据 1 条
• NXF1 综合评分: 0.162 · 证据 1 条
• CPSF6 综合评分: 0.150 · 证据 2 条
• Tardbp 综合评分: 0.150 · 证据 1 条
• U2af1 综合评分: 0.150 · 证据 1 条
• CSTF2T 综合评分: 0.100 · 证据 2 条
• EIF4A3 综合评分: 0.100 · 证据 2 条
• ELAVL3 综合评分: 0.100 · 证据 1 条
• Rbm7 综合评分: 0.100 · 证据 1 条
• Rnps1 综合评分: 0.100 · 证据 1 条
• U2af2 综合评分: 0.100 · 证据 1 条

该基因暂无关联疾病记录