TUBA3C
Description
The TUBA3C (tubulin alpha 3c) is a protein-coding gene located on chromosome 13.
The TUBA3C gene encodes the Tubulin alpha-3C/D chain protein, a crucial component of microtubules. Microtubules are essential cellular structures with diverse functions and are composed of alpha and beta tubulin heterodimers. This gene belongs to the tubulin superfamily, which includes six distinct families found in all eukaryotes. Alpha and beta tubulins are the major constituents of microtubules, while gamma tubulin is essential for microtubule assembly. TUBA3C, an alpha tubulin gene, encodes a protein highly similar to the mouse testis-specific Tuba3 and Tuba7 gene products. Its location in the 13q11 region is associated with genetic diseases like Clouston hidrotic ectodermal dysplasia and Kabuki syndrome. The gene undergoes alternative splicing, leading to two identified variants. TUBA3C interacts with FYN and NMI proteins.
Tubulin is a key component of microtubules, cylindrical structures essential for various cellular processes. Microtubules elongate by the addition of GTP-bound tubulin dimers at their ends, forming a stabilizing cap. Below this cap, the tubulin dimers transition to a GDP-bound state due to the GTPase activity of alpha-tubulin.
TUBA3C is also known as TUBA2, bA408E5.3.
Associated Diseases
- urinary bladder cancer
- lung cancer
- malignant epithelial tumor of ovary
- fallopian tube neoplasm
- breast cancer
- neutropenia
- schizophrenia
- ovarian cancer
- primary peritoneal carcinoma
- thyroid cancer
- head and neck carcinoma
- fallopian tube mucinous adenocarcinoma
- fallopian tube transitional cell carcinoma
