|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
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.
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.
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.
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.
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.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
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).
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.