Tubulin-specific chaperone E is a protein that in humans is encoded by the TBCE gene. Cofactor E is one of four proteins (cofactors A, D, E, and C) involved...
7 KB (849 words) - 18:31, 11 October 2022
well as elsewhere. The condition is caused by mutations or deletions in the TBCE gene of Chromosome No.1. The condition is characterised by a triad of growth...
6 KB (630 words) - 02:26, 4 March 2024
Q15814 16374 TBCCD1 HGNC:25546 Q9NVR7 16375 TBCD HGNC:11581 Q9BTW9 16376 TBCE HGNC:11582 Q15813 16377 TBCEL HGNC:28115 Q5QJ74 16378 TBCK HGNC:28261 Q8TEA7...
242 KB (17 words) - 23:17, 27 April 2024
rich protein 2A SPRTN: Spartan TARBP1: TAR (HIV-1) RNA-binding protein 1 TBCE: Tubulin-specific chaperone E THBS3: Thrombospondin 3 TMCO1: Transmembrane...
46 KB (3,284 words) - 04:21, 11 April 2024
Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD (November 2002). "Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive...
11 KB (1,272 words) - 04:52, 29 June 2024
Sendtner M (2003). "Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human...
4 KB (492 words) - 03:13, 30 January 2023
146255; GATA3 Hypoparathyroidism-retardation-dysmorphism syndrome; 241410; TBCE Hypophosphatasia, adult; 146300; ALPL Hypophosphatasia, childhood; 241510;...
234 KB (18,877 words) - 15:43, 9 May 2024
(November 2002). "Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human...
6 KB (746 words) - 08:41, 7 January 2024
et al. (2003). "Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human...
5 KB (627 words) - 23:53, 3 March 2023
(November 2002). "Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human...
24 KB (2,990 words) - 01:08, 4 December 2023