Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 79083
MIM: 606526
HGNC: 29643
Ensembl: ENSG00000115648
Variants:
dbSNP: 79083
ClinVar: 79083
TCGA: ENSG00000115648
COSMIC: MLPH
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31659808 | 2020 | Single-nucleotide polymorphism rs13426236 contributes to an increased prostate cancer risk via regulating MLPH splicing variant 4. | 10 |
| 31978414 | 2020 | RAB27A/Melanophilin Blocker Inhibits Melanoma Cell Motility and Invasion. | 5 |
| 31659808 | 2020 | Single-nucleotide polymorphism rs13426236 contributes to an increased prostate cancer risk via regulating MLPH splicing variant 4. | 10 |
| 31978414 | 2020 | RAB27A/Melanophilin Blocker Inhibits Melanoma Cell Motility and Invasion. | 5 |
| 30857967 | 2019 | Fusion of ALK to the melanophilin gene MLPH in pediatric Spitz nevi. | 3 |
| 30857967 | 2019 | Fusion of ALK to the melanophilin gene MLPH in pediatric Spitz nevi. | 3 |
| 28266728 | 2017 | Genetic 3'UTR variation is associated with human pigmentation characteristics and sensitivity to sunlight. | 4 |
| 28266728 | 2017 | Genetic 3'UTR variation is associated with human pigmentation characteristics and sensitivity to sunlight. | 4 |
| 26411452 | 2016 | Putative Prostate Cancer Risk SNP in an Androgen Receptor-Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites. | 20 |
| 27016801 | 2016 | A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism. | 13 |
| 26411452 | 2016 | Putative Prostate Cancer Risk SNP in an Androgen Receptor-Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites. | 20 |
| 27016801 | 2016 | A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism. | 13 |
| 24584932 | 2014 | The GTPase-deficient Rab27A(Q78L) mutant inhibits melanosome transport in melanocytes through trapping of Rab27A effector protein Slac2-a/melanophilin in their cytosol: development of a novel melanosome-targetinG tag. | 11 |
| 24584932 | 2014 | The GTPase-deficient Rab27A(Q78L) mutant inhibits melanosome transport in melanocytes through trapping of Rab27A effector protein Slac2-a/melanophilin in their cytosol: development of a novel melanosome-targetinG tag. | 11 |
| 21883982 | 2012 | Cellular and clinical report of new Griscelli syndrome type III cases. | 8 |
Citation
Dessen P
MLPH (melanophilin)
Atlas Genet Cytogenet Oncol Haematol. 2018-11-01
Online version: http://atlasgeneticsoncology.org/gene/57673
