Identity
HGNC
LOCATION
15q21.1
LOCUSID
ALIAS
BLOS6,HPS9,PA,PALLID,PLDN
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: 26258
MIM: 604310
HGNC: 8549
Ensembl: ENSG00000104164
Variants:
dbSNP: 26258
ClinVar: 26258
TCGA: ENSG00000104164
COSMIC: BLOC1S6
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28075530 | 2017 | Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency. | 15 |
| 28075530 | 2017 | Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency. | 15 |
| 26288249 | 2015 | Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development. | 25 |
| 26288249 | 2015 | Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development. | 25 |
| 23750231 | 2013 | MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons. | 24 |
| 23750231 | 2013 | MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons. | 24 |
| 12576321 | 2003 | Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). | 32 |
| 12576321 | 2003 | Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). | 32 |
| 12191018 | 2002 | Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles. | 39 |
| 12191018 | 2002 | Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles. | 39 |
Citation
Dessen P
BLOC1S6 (biogenesis of lysosomal organelles complex 1 subunit 6)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54158/bloc1s6-(biogenesis-of-lysosomal-organelles-complex-1-subunit-6)
