| Type | Description |
|---|---|
| Definition | HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 |
| Date | Results | Publications |
|---|---|---|
| 2019-11-02 10:50:00 | we report a novel homozygous c.383 T > C missense variant in HPS6 associated with low cellular levels of HPS6 mRNA and protein in an individual with subclinical oculocutaneous albinism and a history of severe bleeding | 30369044 |
| 2017-11-26 00:31:00 | Identification of a novel mutation in HPS6 in an individual with hemophilia B shows that, although quite rare, patients may be diagnosed with two independent inherited bleeding disorders. No evidence of lung disease was found in this adult patient with Hermansky-Pudlak syndrome subtype 6 | 27641950 |
| 2017-07-01 11:13:00 | the novel loss-of-function variant in the HPS6 subunit of biogenesis of lysosome-related organelles complex 2 is pathologic and leads to a reduced platelet dense granules and their release. The findings are compatible with an impaired platelet function and hence an enhanced bleeding risk. | 27917594 |
| 2017-05-20 11:57:00 | Biallelic, truncating mutations in HPS6 were identified by candidate Sanger sequencing and included a novel variant. | 26823395 |
| 2017-04-08 11:39:00 | we report novel HPS6 mutations as the first report of HPS6 mutations in the Japanese population. The clinical features in the two sisters suggest OA. Although the patients in this study showed no bleeding problem, we could establish a diagnosis of HPS-6 by WES. | 27225848 |
| Type | IDs |
|---|---|
| Synonymous | BLOC2S3 |
| Gene |
UniProtKB-ID:
HPS6_HUMAN
UniprotKB:
Q86YV9
UniParc:
UPI000000D7EB
EMBL:
AL500527,
AF536238,
BC014993,
CH471066,
AK026154,
BC011594
Ensembl:
ENSG00000166189
KO:
hsa:79803
|
| Nucleutide sequences |
EMBL-CDS:
BAB15378.1,
AAO25965.1,
AAH14993.2,
EAW49726.1,
AAH11594.2
Ensembl_TRS:
ENST00000299238
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000299238
RefSeq:
NP_079023.2
|
| Others |
UniRef100:
UniRef100_Q86YV9
UniRef90:
UniRef90_Q86YV9
UniRef50:
UniRef50_Q86YV9
UniGene:
Hs.125133
CCDS:
CCDS7527.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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