Gene Symbol |
HPS6
|
Entrez Gene |
79803
|
Alt Symbol |
-
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
Hermansky-Pudlak syndrome 6
|
Other Description |
Hermansky-Pudlak syndrome 6 protein|Hermansky-Pudlak syndrome-6 protein (HPS6)|ruby-eye protein homolog
|
Swissprots |
Q5VV69 Q9H685 Q86YV9
|
Accessions |
EAW49725 EAW49726 Q86YV9 AF536238 AAO25965 AK026154 BAB15378 BC009258 BC011594 AAH11594 BC014993 AAH14993 BC064917 BC080564 BI761726 NM_024747 NP_079023
|
Function |
May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. {ECO:0000269|PubMed:17041891}.
|
Subcellular Location |
Microsome membrane. Cytoplasm, cytosol. Early endosome membrane.
|
Tissue Specificity |
Ubiquitous.
|