Identity
HGNC
LOCATION
12q13.2
LOCUSID
ALIAS
D12S53E,ME20,ME20-M,ME20M,P1,P100,PMEL17,SI,SIL,SILV,gp100
FUSION GENES
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: 6490
MIM: 155550
HGNC: 10880
Ensembl: ENSG00000185664
Variants:
dbSNP: 6490
ClinVar: 6490
TCGA: ENSG00000185664
COSMIC: PMEL
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37552474 | 2023 | Biogenesis of fibrils requires C-mannosylation of PMEL. | 0 |
| 37552474 | 2023 | Biogenesis of fibrils requires C-mannosylation of PMEL. | 0 |
| 33833328 | 2021 | Identification of critical amino acid residues in the regulatory N-terminal domain of PMEL. | 3 |
| 34028390 | 2021 | PMEL as a Prognostic Biomarker and Negatively Associated With Immune Infiltration in Skin Cutaneous Melanoma (SKCM). | 10 |
| 34207849 | 2021 | Functional Domains and Evolutionary History of the PMEL and GPNMB Family Proteins. | 1 |
| 33833328 | 2021 | Identification of critical amino acid residues in the regulatory N-terminal domain of PMEL. | 3 |
| 34028390 | 2021 | PMEL as a Prognostic Biomarker and Negatively Associated With Immune Infiltration in Skin Cutaneous Melanoma (SKCM). | 10 |
| 34207849 | 2021 | Functional Domains and Evolutionary History of the PMEL and GPNMB Family Proteins. | 1 |
| 32277052 | 2020 | Modulating functional amyloid formation via alternative splicing of the premelanosomal protein PMEL17. | 7 |
| 32868414 | 2020 | Defining an amyloid link Between Parkinson's disease and melanoma. | 9 |
| 33068637 | 2020 | Hofmeister Ions Modulate the Autocatalytic Amyloidogenesis of an Intrinsically Disordered Functional Amyloid Domain via Unusual Biphasic Kinetics. | 4 |
| 32277052 | 2020 | Modulating functional amyloid formation via alternative splicing of the premelanosomal protein PMEL17. | 7 |
| 32868414 | 2020 | Defining an amyloid link Between Parkinson's disease and melanoma. | 9 |
| 33068637 | 2020 | Hofmeister Ions Modulate the Autocatalytic Amyloidogenesis of an Intrinsically Disordered Functional Amyloid Domain via Unusual Biphasic Kinetics. | 4 |
| 30471451 | 2019 | Lysophospholipids induce fibrillation of the repeat domain of Pmel17 through intermediate core-shell structures. | 8 |
Citation
Dessen P
PMEL (premelanosome protein)
Atlas Genet Cytogenet Oncol Haematol. 2011-01-01
Online version: http://atlasgeneticsoncology.org/gene/51925/pmel
