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Genetics Home Reference: your guide to understanding genetic conditions
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MLPH

Reviewed September 2013

What is the official name of the MLPH gene?

The official name of this gene is “melanophilin.”

MLPH is the gene's official symbol. The MLPH gene is also known by other names, listed below.

What is the normal function of the MLPH gene?

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.

How are changes in the MLPH gene related to health conditions?

Griscelli syndrome - caused by mutations in the MLPH gene

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.

Where is the MLPH gene located?

Cytogenetic Location: 2q37.3

Molecular Location on chromosome 2: base pairs 237,486,409 to 237,555,317

The MLPH gene is located on the long (q) arm of chromosome 2 at position 37.3.

The MLPH gene is located on the long (q) arm of chromosome 2 at position 37.3.

More precisely, the MLPH gene is located from base pair 237,486,409 to base pair 237,555,317 on chromosome 2.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about MLPH?

You and your healthcare professional may find the following resources about MLPH helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the MLPH gene or gene products?

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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding MLPH?

amino acid ; arginine ; gene ; immune system ; melanin ; melanocytes ; mutation ; pigment ; pigmentation ; protein ; syndrome ; tryptophan

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

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. (http://www.ncbi.nlm.nih.gov/pubmed/11856727?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/12897212?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/79083)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/23979131?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/19243575?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/21883982?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: September 2013
Published: July 21, 2014