| Structural highlights
Disease
[RAB18_HUMAN] Defects in RAB18 are the cause of Warburg micro syndrome type 3 (WARBM3) [MIM:614222]. WARBM3 is a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism.[1]
Function
[RAB18_HUMAN] Plays a role in apical endocytosis/recycling. May be implicated in transport between the plasma membrane and early endosomes. Plays a key role in eye and brain development and neurodegeneration.[2]
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
See Also
References
- ↑ Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Muller F, Maher ER, Barr FA, Aligianis IA. Loss-of-function mutations in RAB18 cause Warburg micro syndrome. Am J Hum Genet. 2011 Apr 8;88(4):499-507. doi: 10.1016/j.ajhg.2011.03.012. PMID:21473985 doi:10.1016/j.ajhg.2011.03.012
- ↑ Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Muller F, Maher ER, Barr FA, Aligianis IA. Loss-of-function mutations in RAB18 cause Warburg micro syndrome. Am J Hum Genet. 2011 Apr 8;88(4):499-507. doi: 10.1016/j.ajhg.2011.03.012. PMID:21473985 doi:10.1016/j.ajhg.2011.03.012
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