1. Gene
  2. HPS6 - HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 Gene

HPS6 - HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 Gene

Homo sapiens

Also known as BLOC2S3

Gene ID: 79803 | Gene type: protein coding

About HPS6

Cytogenetic location: 10q24.32 Genomic coordinates (GRCh38): 10:102,065,349-102,068,036 (from NCBI)

This gene has 1 transcript (splice variant), 168 orthologues and is associated with 4 phenotypes.

Summary

This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]

HPS6 Products(1)

mRNA Protein Name
NM_024747.6 NP_079023.2 BLOC-2 complex member HPS6
Protein Preferred Names Protein Names

BLOC-2 complex member HPS6

Hermansky-Pudlak syndrome-6 protein (HPS6)

Related Diseases

Diseases Alias
Hermansky-Pudlak Syndrome 6

HPS6

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Delta Storage Pool Disease

Hermansky-Pudlak Syndrome, Type 6

Platelet Storage Pool Deficiency

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

Hermansky-Pudlak Syndrome Due To Bloc-2 Deficiency

Hps Without Pulmonary Fibrosis

Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis

Hermansky-Pudlak Syndrome 1

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

HPS1

Delta Storage Pool Disease

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Hermansky-Pudlak Syndrome, Type 1

Platelet Storage Pool Deficiency

Hermansky-Pudlak Syndrome 5

HPS5

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Delta Storage Pool Disease

Hermansky-Pudlak Syndrome, Type 5

Platelet Storage Pool Deficiency

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Oculocutaneous Albinism

Albinism, Oculocutaneous

Oca

Albinism Oculocutaneous

Oca - [Oculocutaneous Albinism]

Pulmonary Fibrosis

Fibrosis Of Lung

Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

BSSA2

Bernard-Soulier Syndrome Type A2

Bernard-Soulier Syndrome, Type A2

Bernard-Soulier Syndrome A2, Autosomal Dominant

Autosomal Dominant Benign Bernard-Soulier Syndrome

Benign Mediterranean Macrothrombocytopenia

Bernard-Soulier Syndrome, Benign Autosomal Dominant

Storage Pool Platelet Disease

Platelet Storage Pool Deficiency

Storage Pool Disease Of Platelets

Dense Body Defect

Platelet Dense Granule Deficiency

Platelet Storage Pool Defect

Platelet Storage Pool Diseases

Alpha Delta Granule Deficiency

Alpha Dense Granule Deficiency

Combined Alpha-Delta Platelet Storage Pool Deficiency

Hemophilia B

Christmas Disease

Factor Ix Deficiency

F9 Deficiency

HEMB

Plasma Thromboplastin Component Deficiency

Congenital Factor Ix Deficiency

Mild Hemophilia B

Severe Hemophilia B

Congenital Factor Ix Disorder

Deficiency, Functional Factor Ix

Hem B

Mild Congenital F9 Deficiency

Mild Congenital Factor Ix Deficiency

Moderate Hemophilia B

Moderate Congenital F9 Deficiency

Moderate Congenital Factor Ix Deficiency

Severe Congenital F9 Deficiency

Severe Congenital Factor Ix Deficiency

Bleeding Disorder In Hemophilia B Carriers

Congenital F9 Deficiency

Recessive X-Linked Hemophilia B

Bleeding Disorder, Platelet-Type, 14

Thromboxane Synthetase Deficiency

BDPLT14

Platelet-Type Bleeding Disorder 14

Thromboxane Synthase Deficiency

Bleeding Disorder, Platelet-Type, 8

Bleeding Disorder Due To P2ry12 Defect

Platelet-Type Bleeding Disorder 8

BDPLT8

Adp Platelet Receptor P2y12 Defect

P2y12 Defect

Bleeding Disorder Due To Adp Platelet Receptor P2y12 Defect

Bleeding Disorder Due To P2y12 Defect

Bleeding Disorder Due To P2rx1 Defect, Somatic

Bleeding Disorder, Platelet-Type 8

Adp Platelet Receptor P2y12 Deficiency

P2ry12 Deficiency

P2y12 Deficiency

Bleeding Disorder, Platelet Type 8

Pathologic Nystagmus

Nystagmus

Ghosal Hematodiaphyseal Dysplasia

Ghosal Syndrome

Ghosal Hematodiaphyseal Syndrome

GHDD

Diaphyseal Dysplasia-Anemia Syndrome

Ghosal Hematodiaphyseal Dysplasia Syndrome

Diaphyseal Dysplasia Associated With Anemia

Ghosal Hemato-Diaphyseal Dysplasia

Ghosal-Type Hemato-Diaphyseal Dysplasia

Albinism, Oculocutaneous, Type Iv

OCA4

Oculocutaneous Albinism Type 4

Oculocutaneous Albinism, Type Iv

Oculocutaneous Albinism Type Iv

Albinism, Oculocutaneous, 4

Congenital Nystagmus

Nystagmus, Congenital

Nystagmus Congenital

Albinism, Oculocutaneous, Type Iii

Rufous Oculocutaneous Albinism

Oculocutaneous Albinism Type 3

OCA3

Roca

Xanthism

Oculocutaneous Albinism Type Iii

Albinism Iii

Oculocutaneous Albinism, Type Iii

Albinism 3

Albinism, Oculocutaneous, Type 3

Rufous Oca

Red Oculocutaneous Albinism

Xanthous Oculocutaneous Albinism

Albinism, Oculocutaneous, 3

Oca-Iii

Griscelli Syndrome, Type 1

Griscelli Syndrome Type 1

GS1

Griscelli Syndrome With Neurologic Impairment

Partial Albinism And Primary Neurologic Disease Without Hemophagocytic Syndrome

Griscelli Syndrome, Cutaneous And Neurologic Type

Griscelli-Prunieras Syndrome Type 1

Hypopigmentation-Neurologic Impairment Syndrome

Griscelli Syndrome With Neurological Impairment

Griscelli Syndrome, Cutaneous And Neurological Type

Pigmentary Dilution Of The Skin And Hair, The Presence Of Large Clumps Of Pigment In Hair Shafts

Griscelli Syndrome 1

Griscelli Syndrome With Primary Neurologic Impairment

Albinism, Oculocutaneous, Type Ii

OCA2

Oculocutaneous Albinism Type 2

Oculocutaneous Albinism Type Ii

Albinoidism

Tyrosinase-Positive Oculocutaneous Albinism

Brown Oculocutaneous Albinism

Oculocutaneous Albinism, Tyrosinase-Positive

Albinism Ii

Albinism, Brown Oculocutaneous

Oculocutaneous Albinism, Type Ii, Modifier Of

Oculocutaneous Albinism, Type Ii

Albinism, Oculocutaneous, Type Ii, Modifier Of

Albinism 2

Albinism, Oculocutaneous, Type 2

Oculocutaneous Albinism Tyrosinase Positive

Oculocutaneous Albinism, Tyrosinase Positive

Albinism, Oculocutaneous, 2

Boca

Oca-2

Oculocutaneous Albinism Tyrosinase-Positive

Chediak-Higashi Syndrome

CHS

Chédiak-Higashi Syndrome

Chediak - Steinbrinck Anomaly

Chediak Higashi Syndrome

Chediak-Steinbrinck-Higashi Syndrome

Oculocutaneous Albinism With Leukocyte Defect

Chediak-Higashi Disease

Chediak-Higashi-Steinbrink Syndrome

Ocular Albinism

Albinism, Ocular

Oa

Xloa

Albinism Ocular

Griscelli Syndrome

Chediak-Higashi-Like Syndrome

Griscelli-Prunieras Syndrome

Partial Albinism-Immunodeficiency Syndrome

Griscelli Disease

Gs

Hypopigmentation Immunodeficiency Disease

Partial Albinism With Immunodeficiency

Immunodeficiency Syndrome With Hypopigmentation

Hypopigmentation-Immunodeficiency Disease

Hermansky-Pudlak Syndrome 3

HPS3

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Delta Storage Pool Disease

Hermansky-Pudlak Syndrome, Type 3

Platelet Storage Pool Deficiency

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Exotropia

Divergent Concomitant Strabismus

Divergent Strabismus

Divergent Squint

External Strabismus

Xt - [Exotropia]

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus HPS6 VGNC VGNC:82346
Bos taurus HPS6 VGNC VGNC:29947
Mus musculus HPS6 MGD MGI:2181763
Macaca mulatta HPS6 VGNC VGNC:73418
Canis familiaris HPS6 VGNC VGNC:41778
Rattus norvegicus HPS6 RGD RGD:631341