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Gene Review

MBS2  -  Moebius syndrome 2

Homo sapiens

Synonyms: HCFP1
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Disease relevance of MBS2

  • Three congenital disorders have been localised to this region: blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), Charcot-Marie-Tooth neuropathy type IIB (CMT2B) and Mobius syndrome type 2 (MBS2) [1].

High impact information on MBS2

  • The Atox1 preference toward MBS2 is likely due to specific protein-protein interactions and is not due to unique surface exposure of the metal-coordinating residues or higher copper binding affinity of MBS2 compared with other sites [2].
  • We demonstrate that the metal-binding site 2 (MBS2) in the N-terminal domain of WNDP (N-WNDP) plays an important role in this process [2].
  • The transfer of one copper from Atox1 to N-WNDP results in selective protection of the metal-coordinating cysteines in MBS2 against labeling with a cysteine-directed probe [2].

Other interactions of MBS2

  • Competition experiments using a copper chelator revealed that MBS2 retained copper much better than Atox1, and this may facilitate the metal transfer process [2].

Analytical, diagnostic and therapeutic context of MBS2


  1. Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases. Hargrave, M., James, K., Nield, K., Toomes, C., Georgas, K., Sullivan, T., Verzijl, H.T., Oley, C.A., Little, M., De Jonghe, P., Kwon, J.M., Kremer, H., Dixon, M.J., Timmerman, V., Yamada, T., Koopman, P. Hum. Genet. (2000) [Pubmed]
  2. The N-terminal metal-binding site 2 of the Wilson's Disease Protein plays a key role in the transfer of copper from Atox1. Walker, J.M., Huster, D., Ralle, M., Morgan, C.T., Blackburn, N.J., Lutsenko, S. J. Biol. Chem. (2004) [Pubmed]
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