TUBA3E (NM_207312) - tubulin alpha 3e
Tubulin Alpha-3e Chain
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Protein summary
Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of 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. This gene encodes an alpha tubulin that highly conserved among species. A missense mutation in this gene has been potentially linked to microlissencephaly and global developmental delay. [provided by RefSeq, Jul 2016].
Evidence data:
Transcript exon combination :: BC057811.1, SRR5189667.146939.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2149178, SAMEA2158188 [ECO:0000348]
- Strand
- -
- Chromosome
- 2
- Protein
- 450 residues
- All mutations
- 105
- PTM sites
- 41
- CDS
- 130,949,403 - 130,955,933
- Transcription
- 130,949,317 - 130,956,034
Usage summary
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