Features include always present findings: Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, and White eyelashes; and very common findings: Hypopigmentation of hair. 8 total HPO annotations.

MLPH encodes melanophilin (600 aa). Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A Highest expression in Prostate (139.8 TPM) and Minor Salivary Gland (132.9 TPM).

Griscelli syndrome type 3 is associated with mutations in the MLPH gene on chromosome 2.

The MLPH protein participates in MLPH/MYRIP bind GGC-RAB27A and MYO5A, MITF-M-dependent MYO5A expression, and MITF-M-dependent RAB27A expression pathways.

MLPH is classified as a druggable target with score 0.0.

Genetic testing for MLPH is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Griscelli syndrome type 3 has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 1 very common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for Griscelli syndrome type 3.

174 publications have been identified in PubMed for Griscelli syndrome type 3. Research spans Review / Meta-Analysis (28%), Epidemiology / Natural History (25%), and Basic Science / Preclinical (24%).