TBCD
Function
Tubulin-folding protein implicated in the first step of the tubulin folding pathway and required for tubulin complex assembly. Involved in the regulation of microtubule polymerization or depolymerization, it modulates microtubule dynamics by capturing GTP-bound beta-tubulin (TUBB). Its ability to interact with beta tubulin is regulated via its interaction with ARL2. Acts as a GTPase-activating protein (GAP) for ARL2. Induces microtubule disruption in absence of ARL2. Increases degradation of beta tubulin, when overexpressed in polarized cells. Promotes epithelial cell detachment, a process antagonized by ARL2. Induces tight adherens and tight junctions disassembly at the lateral cell membrane (PubMed:10722852, PubMed:10831612, PubMed:11847227, PubMed:20740604, PubMed:27666370, PubMed:28158450). Required for correct assembly and maintenance of the mitotic spindle, and proper progression of mitosis (PubMed:27666370). Involved in neuron morphogenesis (PubMed:27666374).
Involvement in disease
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
PEBAT
An autosomal recessive disease with neurodevelopmental and neurodegenerative features. PEBAT is characterized by early-onset cortical atrophy, hypomyelination, microcephaly, thin corpus callosum, delayed psychomotor development, developmental regression, intellectual disability, seizures, optic atrophy, muscle weakness and atrophy, spastic quadriplegia, and respiratory insufficiency due to hypotonia.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TBCD family.
Tissue Specificity
Ubiquitously expressed.
Cellular localization
- Cell junction
- Tight junction
- Lateral cell membrane
- Cytoplasm
- Cell junction
- Adherens junction
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Localized in cell-cell contacts.
Alternative names
KIAA0988, SSD1, TFCD, PP1096, TBCD, Tubulin-specific chaperone D, Beta-tubulin cofactor D, SSD-1, Tubulin-folding cofactor D, tfcD