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: 79803
MIM: 607522
HGNC: 18817
Ensembl: ENSG00000166189
Variants:
dbSNP: 79803
ClinVar: 79803
TCGA: ENSG00000166189
COSMIC: HPS6
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000166189 | ENST00000299238 | Q86YV9 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38091959 | 2024 | Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants. | 0 |
| 38091959 | 2024 | Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants. | 0 |
| 33878481 | 2021 | Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6. | 2 |
| 33878481 | 2021 | Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6. | 2 |
| 30369044 | 2018 | Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. | 5 |
| 30369044 | 2018 | Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. | 5 |
| 27917594 | 2017 | A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome. | 5 |
| 27917594 | 2017 | A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome. | 5 |
| 26823395 | 2016 | The ophthalmic presentation of Hermansky-Pudlak syndrome 6. | 3 |
| 27225848 | 2016 | Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. | 5 |
| 27641950 | 2016 | Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. | 7 |
| 26823395 | 2016 | The ophthalmic presentation of Hermansky-Pudlak syndrome 6. | 3 |
| 27225848 | 2016 | Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. | 5 |
| 27641950 | 2016 | Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. | 7 |
| 25189619 | 2014 | HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes. | 16 |
Citation
Dessen P
HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3)
Atlas Genet Cytogenet Oncol Haematol. 2012-03-01
Online version: http://atlasgeneticsoncology.org/gene/52631/hps6
