🧬 基因注释：TUBA1A
官方名称：tubulin alpha 1a
功能摘要：Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blot studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, intellectual disability, and early-onset epilepsy caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017].
- HNRNPA2B1 综合评分: 0.579 · 证据 2 条
- FUS 综合评分: 0.514 · 证据 1 条
- fus 综合评分: 0.514 · 证据 1 条
- RBFOX2 综合评分: 0.474 · 证据 2 条
- HNRNPH1 综合评分: 0.448 · 证据 2 条
- Srsf3 综合评分: 0.424 · 证据 1 条
- Tardbp 综合评分: 0.422 · 证据 1 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- MBNL2 综合评分: 0.344 · 证据 1 条
- PCBP2 综合评分: 0.324 · 证据 1 条
- RBM15 综合评分: 0.312 · 证据 2 条
- CELF2 综合评分: 0.310 · 证据 2 条
- SRSF2 综合评分: 0.300 · 证据 1 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- Srsf2 综合评分: 0.300 · 证据 1 条
- PRPF8 综合评分: 0.298 · 证据 1 条
- GRSF1 综合评分: 0.274 · 证据 2 条
该基因暂无关联疾病记录