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MLPH gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MLH1 gene

The MLPH gene provides instructions for the melanophilin protein, which is essential for the transport of pigment-producing structures in the body.

Normal Function

The MLPH gene provides instructions for making a protein called melanophilin. This protein is found in melanocytes, the cells that produce melanin—the pigment responsible for skin, hair, and eye color. Melanophilin helps transport melanosomes, the structures that produce melanin, to the outer edges of melanocytes. It achieves this by interacting with proteins produced by the MYO5A and RAB27A genes to form a transport complex. Once at the edges of the melanocytes, melanosomes are transferred to other cells to provide normal pigmentation.

Health Conditions Related to Genetic Changes

Griscelli syndrome

Mutations in the MLPH gene can cause Griscelli syndrome type 3. This condition is characterized by:

  • Unusually light (hypopigmented) skin
  • Silvery-gray hair

Unlike other forms of Griscelli syndrome, type 3 does not involve immune system or brain abnormalities. A known mutation (Arg35Trp) reduces the amount of melanophilin produced. The small amount of protein that is created cannot form the necessary complex with MYO5A and RAB27A proteins. Consequently, melanosomes cannot be transported to the edges of the melanocytes and instead clump near the center, trapping melanin and preventing normal skin and hair pigmentation.

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

Frequently Asked Questions

No therapy currently restores normal pigmentation in type 3. Management focuses on cosmetic options, such as topical depigmentation creams or hair dyes, and on protecting skin from sun damage with broad‑spectrum sunscreen. Some patients may benefit from psychological support to cope with the cosmetic appearance. Research into gene therapy or small‑molecule modulators of melanosome transport is ongoing but not yet available clinically.
Unlike types 1 and 2, type 3 does not involve immune dysfunction or neurological problems. Therefore, patients generally do not have increased risk of infections, bleeding disorders, or neurodevelopmental delays. Routine monitoring for other health issues follows standard pediatric guidelines, and there is no specific surveillance needed for organ systems beyond normal care.===
The condition is caused by mutations in the MLPH gene that reduce or eliminate the melanophilin protein. Without functional melanophilin, melanosomes (melanin‑containing organelles) cannot be transported to the cell periphery in melanocytes. As a result, melanin remains trapped in the center of the cells, leading to hypopigmented skin and silvery or gray hair. The lack of immune or neurological involvement distinguishes type 3 from other Griscelli subtypes.
Diagnosis is based on clinical features—light skin, silvery hair, and normal immune and neurological exams—combined with a skin biopsy that shows melanosomes clustered centrally in melanocytes. Genetic testing for MLPH mutations confirms the diagnosis. This approach helps differentiate it from other hypopigmentation disorders such as albinism, vitiligo, or other Griscelli types that involve immune or neurological deficits.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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