基因名：
TBCEL
产品别名：
El； LRRC35； TBCEL； tubulin folding cofactor E like； tubulin folding cofactor E like； tubulin-specific chaperone cofactor E-like protein； E-like； catastrophin； leucine rich repeat containing 35； leucine-rich repeat-containing protein 35； tubulin-specific chaperone e-like； 微管蛋白折叠辅助因子E样；
背景信息：
TBCEL is a 424 amino acid cytoplasmic protein that acts as a regulator of tubulin stability. While abundantly expressed in testis, TBCEL is also present in several tissues at a much lower level. TBCEL contains seven LRR (leucine-rich) repeats, one LRRCT domain and one ubiquitin-like domain. The gene that encodes TBCEL consists of 66,704 bases and maps to human chromosome 11q23.3. Chromosome 11 houses over 1,400 genes and comprises nearly 4% of the human genome. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are associated with defects in genes that map to chromosome 11.
