Alpha-tubulin 3C
Alpha-tubulin 3C | |||||||
---|---|---|---|---|---|---|---|
Identifiers | |||||||
Symbol | TUBA3C | ||||||
NCBI gene | 112714 | ||||||
RefSeq | NM_006000 | ||||||
UniProt | Q9BVA1 | ||||||
Other data | |||||||
Locus | Chr. 13 q12 | ||||||
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Alpha-tubulin 3C is a protein that in humans is encoded by the TUBA3C gene. It is a member of the tubulin superfamily, which plays a crucial role in the formation of microtubules, essential components of the cytoskeleton.
Function[edit | edit source]
Alpha-tubulin 3C is a structural component of microtubules, which are involved in various cellular processes such as cell division, intracellular transport, and cell shape maintenance. It participates in the dynamic assembly and disassembly of microtubules, contributing to cell motility and organization.
Structure[edit | edit source]
Alpha-tubulin 3C is a globular protein that forms heterodimers with beta-tubulin to create the building blocks of microtubules. These heterodimers polymerize to form the tubular structure of microtubules, providing structural support and serving as tracks for motor proteins to transport cellular cargo.
Clinical Significance[edit | edit source]
Mutations in the TUBA3C gene have been associated with various neurological disorders and developmental abnormalities. Dysregulation of alpha-tubulin 3C expression can lead to defects in neuronal migration, axon guidance, and synaptic function, contributing to conditions such as neurodevelopmental disorders and neurodegenerative diseases.
Interactions[edit | edit source]
Alpha-tubulin 3C interacts with a variety of proteins involved in microtubule dynamics, motor protein function, and cellular signaling pathways. These interactions regulate the stability and organization of microtubules, influencing cellular processes such as cell division, intracellular transport, and cell motility.
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD