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Gene Review

TBCE  -  tubulin folding cofactor E

Homo sapiens

Synonyms: HRD, KCS, KCS1, Tubulin-folding cofactor E, Tubulin-specific chaperone E, ...
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Disease relevance of TBCE

  • A similar syndrome with the additional features of osteosclerosis and recurrent bacterial infections has been classified as autosomal recessive Kenny-Caffey syndrome (AR-KCS; OMIM 244460) [1].
  • A host cell protein binds to a highly conserved sequence element (pac-2) within the cytomegalovirus a sequence [2].
  • Comparison of published sequences of concatemeric junctions of several herpesviruses supported a uniform mechanism for the cleavage-packaging process, involving the measurement from two highly conserved blocks of sequences (pac-1 and pac-2) which were homologous to the required Uc and Ub sequences [3].
  • The human cytomegalovirus (CMV) a sequence has significant homology to two regions, pac-1 and pac-2, within the a sequence of herpes simplex virus type 1 (HSV-1) [2].
  • As for the polyp size distribution, there was no significant difference between the HRD- and LRD-fed mice [4].

Psychiatry related information on TBCE

  • Deletion and truncation mutations in the gene encoding TBCE have been shown to cause the rare autosomal recessive syndrome known as HRD, a devastating disorder characterized by congenital hypoparathyroidism, mental retardation, facial dysmorphism, and extreme growth failure [5].
  • This article has discussed three essential role shifts for the HRD practitioner: reactor to initiator, "pair-of-hands" to collaborator, and problem solving consultant to action learning facilitator [6].

High impact information on TBCE


Biological context of TBCE

  • The right genome terminus and the DRL-U junction contained a homolog of the consensus herpesvirus packaging signal, pac-2, followed by longer tandem arrays of TRSs separated by single copies of either a 6-bp or a 14-bp repeat [10].
  • Herpesviral DNA packaging is a complex process involving binding and cleavage of DNA containing the specific DNA-packaging motifs, pac1 and pac2, and packaging of the resulting unit-length genomes into preformed procapsids [11].
  • The packaging signals pac-1 and pac-2 are well conserved in different herpesviruses and amplicons with a DNA replication origin and cleavage and packaging signals have been produced in additional herpesviruses [12].
  • It is the authors' opinion that the functional visual acuity tester and the new tear stability analysis system will be widely used to improve diagnosis and evaluate treatment outcomes in KCS [13].
  • This disorder has been mapped to the long arm of chromosome 1 (1q42-q43) and mutations in the gene coding for tubulin-specific chaperone E (TBCE) have been identified as the cause of the disease [14].

Anatomical context of TBCE


Associations of TBCE with chemical compounds


Other interactions of TBCE


Analytical, diagnostic and therapeutic context of TBCE

  • Using the cis-acting human cytomegalovirus (HCMV) packaging elements (pac 1 and pac 2) as DNA probes, specific DNA-protein complexes were detected by electrophoretic mobility shift assay (EMSA) in both HCMV-infected cell nuclear extracts and recombinant baculovirus-infected cell extracts containing the HCMV p130 (pUL56) protein [18].


  1. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Parvari, R., Hershkovitz, E., Grossman, N., Gorodischer, R., Loeys, B., Zecic, A., Mortier, G., Gregory, S., Sharony, R., Kambouris, M., Sakati, N., Meyer, B.F., Al Aqeel, A.I., Al Humaidan, A.K., Al Zanhrani, F., Al Swaid, A., Al Othman, J., Diaz, G.A., Weiner, R., Khan, K.T., Gordon, R., Gelb, B.D. Nat. Genet. (2002) [Pubmed]
  2. A host cell protein binds to a highly conserved sequence element (pac-2) within the cytomegalovirus a sequence. Kemble, G.W., Mocarski, E.S. J. Virol. (1989) [Pubmed]
  3. Functional domains within the a sequence involved in the cleavage-packaging of herpes simplex virus DNA. Deiss, L.P., Chou, J., Frenkel, N. J. Virol. (1986) [Pubmed]
  4. Suppression of intestinal polyp development by low-fat and high-fiber diet in Apc(delta716) knockout mice. Hioki, K., Shivapurkar, N., Oshima, H., Alabaster, O., Oshima, M., Taketo, M.M. Carcinogenesis (1997) [Pubmed]
  5. Cryptic out-of-frame translational initiation of TBCE rescues tubulin formation in compound heterozygous HRD. Tian, G., Huang, M.C., Parvari, R., Diaz, G.A., Cowan, N.J. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  6. Change begets change: emerging role of the human resources development practitioner. Gundlach, A.M. Journal of healthcare education and training : the journal of the American Society for Healthcare Education and Training / American Hospital Association. (1990) [Pubmed]
  7. Pathway leading to correctly folded beta-tubulin. Tian, G., Huang, Y., Rommelaere, H., Vandekerckhove, J., Ampe, C., Cowan, N.J. Cell (1996) [Pubmed]
  8. A complex of Yos9p and the HRD ligase integrates endoplasmic reticulum quality control into the degradation machinery. Gauss, R., Jarosch, E., Sommer, T., Hirsch, C. Nat. Cell Biol. (2006) [Pubmed]
  9. Endoplasmic reticulum degradation requires lumen to cytosol signaling. Transmembrane control of Hrd1p by Hrd3p. Gardner, R.G., Swarbrick, G.M., Bays, N.W., Cronin, S.R., Wilhovsky, S., Seelig, L., Kim, C., Hampton, R.Y. J. Cell Biol. (2000) [Pubmed]
  10. Identification of human telomeric repeat motifs at the genome termini of human herpesvirus 7: structural analysis and heterogeneity. Secchiero, P., Nicholas, J., Deng, H., Xiaopeng, T., van Loon, N., Ruvolo, V.R., Berneman, Z.N., Reitz, M.S., Dewhurst, S. J. Virol. (1995) [Pubmed]
  11. Human cytomegalovirus terminase as a target for antiviral chemotherapy. Bogner, E. Rev. Med. Virol. (2002) [Pubmed]
  12. The history of the HSV amplicon: from naturally occurring defective genomes to engineered amplicon vectors. Frenkel, N. Current gene therapy. (2006) [Pubmed]
  13. New insights into the diagnosis and treatment of dry eye. Dogru, M., Tsubota, K. The ocular surface (2004) [Pubmed]
  14. Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. Courtens, W., Wuyts, W., Poot, M., Szuhai, K., Wauters, J., Reyniers, E., Eleveld, M., Diaz, G., Nöthen, M.M., Parvari, R. Am. J. Med. Genet. A (2006) [Pubmed]
  15. Keratoconus: matrix metalloproteinase-2 activation and TIMP modulation. Smith, V.A., Matthews, F.J., Majid, M.A., Cook, S.D. Biochim. Biophys. Acta (2006) [Pubmed]
  16. Role of 26S proteasome and HRD genes in the degradation of 3-hydroxy-3-methylglutaryl-CoA reductase, an integral endoplasmic reticulum membrane protein. Hampton, R.Y., Gardner, R.G., Rine, J. Mol. Biol. Cell (1996) [Pubmed]
  17. Antibodies against highly conserved sites in the epidermal growth factor receptor tyrosine kinase domain as probes for structure and function. Brown, N.A., Compton, L.A., Clinton, G.M. Biochemistry (1993) [Pubmed]
  18. The gene product of human cytomegalovirus open reading frame UL56 binds the pac motif and has specific nuclease activity. Bogner, E., Radsak, K., Stinski, M.F. J. Virol. (1998) [Pubmed]
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