Home > A. Molecular pathology > MLPH

MLPH

MIM.606526 2q37

Thursday 17 May 2007

Pathology

- germline mutation in Griscelli syndrome type 3 (GS3) (MIM.609227)

References

- Fukuda, M.; Kuroda, T. S.; Mikoshiba, K. : Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport. J. Biol. Chem. 277: 12432-12436, 2002. PubMed ID : #11856727#

- Matesic, L. E.; Yip, R.; Reuss, A. E.; Swing, D. A.; O’Sullivan, T. N.; Fletcher, C. F.; Copeland, N. G.; Jenkins, N. A. : Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice. Proc. Nat. Acad. Sci. 98: 10238-10243, 2001. PubMed ID : #11504925#

- Menasche, G.; Ho, C. H.; Sanal, O.; Feldmann, J.; Tezcan, I.; Ersoy, F.; Houdusse, A.; Fischer, A.; de Saint Basile, G. : Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J. Clin. Invest. 112: 450-456, 2003. PubMed ID : #12897212#

- Sanal, O.; Ersoy, F.; Tezcan, I.; Metin, A.; Yel, L.; Menasche, G.; Gurgey, A.; Berkel, I.; de Saint Basile, G. : Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity. J. Clin. Immun. 22: 237-243, 2002. PubMed ID : #12148598#