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MLPH gene

melanophilin
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Normal Function

The MLPH gene provides instructions for making a protein called melanophilin. This protein is found in pigment-producing cells called melanocytes, where it helps transport structures called melanosomes. These structures produce a pigment called melanin, which is the substance that gives skin, hair, and eyes their color (pigmentation). Melanophilin interacts with proteins produced from the MYO5A and RAB27A genes to form a complex that transports melanosomes to the outer edges of melanocytes. From there, the melanosomes are transferred to other types of cells, where they provide the pigment needed for normal hair, skin, and eye coloring.

Health Conditions Related to Genetic Changes

Griscelli syndrome

At least one mutation in the MLPH gene has been found to cause Griscelli syndrome. This genetic change causes a form of the condition designated type 3, which is characterized by unusually light (hypopigmented) skin and silvery-gray hair. Unlike the other forms of Griscelli syndrome, type 3 does not involve abnormalities of the brain or immune system.

The known MLPH gene mutation changes a single protein building block (amino acid) in the melanophilin protein. Specifically, it replaces the amino acid arginine with the amino acid tryptophan at protein position 35 (written as Arg35Trp or R35W). This mutation reduces the amount of melanophilin produced; the small amount of protein that is produced is unable to form a complex with the proteins made from the MYO5A and RAB27A genes. Without this complex, melanosomes cannot be transported to the edges of melanocytes. Instead, they clump near the center of melanocytes, trapping melanin within these cells and preventing normal pigmentation of skin and hair.

More About This Health Condition

Other Names for This Gene

  • exophilin-3
  • l(1)-3Rk
  • l1Rk3
  • MELPH_HUMAN
  • Slac-2a
  • SLAC2-A
  • slp homolog lacking C2 domains a
  • synaptotagmin-like protein 2a

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Fukuda M, Kuroda TS, 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. 2002 Apr 5;277(14):12432-6. Epub 2002 Feb 20. Citation on PubMed
  • Ménasché G, Ho CH, 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. 2003 Aug;112(3):450-6. Erratum in: J Clin Invest. 2005 Apr;115(4):1100. Citation on PubMed or Free article on PubMed Central
  • Sckolnick M, Krementsova EB, Warshaw DM, Trybus KM. More than just a cargo adapter, melanophilin prolongs and slows processive runs of myosin Va. J Biol Chem. 2013 Oct 11;288(41):29313-22. doi: 10.1074/jbc.M113.476929. Epub 2013 Aug 26. Citation on PubMed or Free article on PubMed Central
  • Van Gele M, Dynoodt P, Lambert J. Griscelli syndrome: a model system to study vesicular trafficking. Pigment Cell Melanoma Res. 2009 Jun;22(3):268-82. doi: 10.1111/j.1755-148X.2009.00558.x. Epub 2009 Feb 25. Review. Citation on PubMed
  • Westbroek W, Klar A, Cullinane AR, Ziegler SG, Hurvitz H, Ganem A, Wilson K, Dorward H, Huizing M, Tamimi H, Vainshtein I, Berkun Y, Lavie M, Gahl WA, Anikster Y. Cellular and clinical report of new Griscelli syndrome type III cases. Pigment Cell Melanoma Res. 2012 Jan;25(1):47-56. doi: 10.1111/j.1755-148X.2011.00901.x. Epub 2011 Oct 3. Citation on PubMed or Free article on PubMed Central
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