MLPH Chromosome 2
Melanophilin
Upload your DNA to see your personal genotypes for variants in MLPH.
What This Gene Does
This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
2q37.3
Ensembl
ENSG00000115648
Associated Conditions (8)
MLPH-related disorder
Inborn genetic diseases
Uterine corpus endometrial carcinoma
Colorectal cancer
Thyroid cancer
nonmedullary
1
Griscelli syndrome type 3
Key Variants
RS112711398
Conflicting classifications of pathogenicity
MLPH-related disorder, Inborn genetic diseases, Uterine corpus endometrial carcinoma
Health Risk
RS113169138
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140470472
Conflicting classifications of pathogenicity
Griscelli syndrome type 3, Griscelli syndrome type 3
Health Risk
RS200753921
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS528863829
Conflicting classifications of pathogenicity
MLPH-related disorder, MLPH-related disorder
Health Risk
RS61737688
Conflicting classifications of pathogenicity
Health Risk
RS758805619
Conflicting classifications of pathogenicity
MLPH-related disorder, MLPH-related disorder
Health Risk
RS119473031
Likely pathogenic
Griscelli syndrome type 3, Griscelli syndrome type 3
Health Risk
RS2106291953
Likely pathogenic
Griscelli syndrome type 3, Griscelli syndrome type 3
Health Risk
RS146551411
Pathogenic
Inborn genetic diseases, Griscelli syndrome type 3, Inborn genetic diseases
Health Risk
RS2469629371
Pathogenic
Health Risk
RS786205641
Pathogenic
Griscelli syndrome type 3, Griscelli syndrome type 3
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112711398 | Health Risk | Conflicting classifications of pathogenicity | MLPH-related disorder, Inborn genetic diseases, Uterine corpus endometrial carcinoma |
| RS113169138 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS140470472 | Health Risk | Conflicting classifications of pathogenicity | Griscelli syndrome type 3, Griscelli syndrome type 3 |
| RS200753921 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS528863829 | Health Risk | Conflicting classifications of pathogenicity | MLPH-related disorder, MLPH-related disorder |
| RS61737688 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758805619 | Health Risk | Conflicting classifications of pathogenicity | MLPH-related disorder, MLPH-related disorder |
| RS119473031 | Health Risk | Likely pathogenic | Griscelli syndrome type 3, Griscelli syndrome type 3 |
| RS2106291953 | Health Risk | Likely pathogenic | Griscelli syndrome type 3, Griscelli syndrome type 3 |
| RS146551411 | Health Risk | Pathogenic | Inborn genetic diseases, Griscelli syndrome type 3, Inborn genetic diseases |
| RS2469629371 | Health Risk | Pathogenic | — |
| RS786205641 | Health Risk | Pathogenic | Griscelli syndrome type 3, Griscelli syndrome type 3 |
| RS786205551 | Health Risk | Pathogenic/Likely pathogenic | Griscelli syndrome type 3, Griscelli syndrome type 3 |