LYST - lysosomal trafficking regulator Gene

Homo sapiens

Also known as CHS; CHS1; Mauve

Gene ID: 1130 | Gene type: protein coding

About LYST

Cytogenetic location: 1q42.3 Genomic coordinates (GRCh38): 1:235,661,031-235,883,713 (from NCBI)

This gene has 30 transcripts (splice variants), 200 orthologues, 7 paralogues and is associated with 4 phenotypes. Broad expression in bone marrow (RPKM 12.2), skin (RPKM 4.6) and 24 other tissues.

Summary

This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013]

LYST Products(2)

mRNA	Protein	Name
NM_000081.4	NP_000072.2	lysosomal-trafficking regulator
NM_001301365.1	NP_001288294.1	lysosomal-trafficking regulator

LYST Protein Structure

PH_BEACH

Beach

WD40

0
600
1200
1800
2400
3000
3600
3801 a.a.

Protein Preferred Names

Protein Names

lysosomal-trafficking regulator

Chediak-Higashi syndrome 1

Related Diseases

Diseases

Alias

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

Attenuated Chediak-Higashi Syndrome

Atypical Chediak-Higashi Syndrome

Autoinflammatory Syndrome

Spastic Ataxia

Spax	Ataxia, Spastic

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

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

Exfoliation Syndrome

Pseudoexfoliation Glaucoma	Pseudoexfoliation Syndrome
Exfoliation Syndrome, Susceptibility To	XFS
Exfoliation Glaucoma	Xfg
Pseudoexfoliation Of The Lens	Pexg
Pexs	Exfoliative Syndrome
Glaucoma Capsulare	Pex
Pseudo-Exfoliation Syndrome

Lymphoproliferative Syndrome, X-Linked, 2

XLP2	Xiap Deficiency
X-Linked Lymphoproliferative Syndrome 2	X-Linked Lymphoproliferative Disease Due To Xiap Deficiency
Xiap-Related Lymphoproliferative Disease, X-Linked	X-Linked Lymphoproliferative Syndrome Type 2
Xiap Deficiency Syndrome

Griscelli Syndrome, Type 2

Griscelli Syndrome Type 2	GS2
Griscelli Syndrome With Hemophagocytic Syndrome	Partial Albinism And Immunodeficiency Syndrome
Paid Syndrome	Hypopigmentation-Immunodeficiency With Or Without Neurologic Impairment Syndrome
Griscelli-Prunieras Syndrome Type 2	Griscelli-Pruniéras Syndrome Type 2
Griscelli Syndrome 2

Spontaneous Ocular Nystagmus

Visual Deprivation Nystagmus	Ocular Nystagmus
Searching Eye Movements	Nystagmus, Pathologic

Piebald Trait

Piebaldism	PBT
Partial Albinism	Albinoidism, Oculocutaneous, Autosomal Dominant

Hermansky-Pudlak Syndrome 2

HPS2	Hermansky Pudlak Syndrome 2
Platelet Defects And Oculocutaneous Albinism	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
Delta Storage Pool Disease	Hermansky-Pudlak Syndrome, Type 2
Platelet Storage Pool Deficiency	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Ocular Pigment Dispersion With Or Without Glaucoma

Pigment Dispersion Syndrome	Glaucoma-Related Pigment Dispersion Syndrome
OPDG	Pds
Glaucoma, Pigment-Dispersion Type	Gpds1
Pigment-Dispersion Type Glaucoma	Pigment-Dispersion Syndrome
Glaucoma, Open-Angle

Hemophagocytic Lymphohistiocytosis

Lymphohistiocytosis, Hemophagocytic	Haemophagocytic Syndrome
Lymphohistiocytosis Hemophagocytic	Hemophagocytic Syndrome
Familial Hemophagocytic Lymphocytosis	Histiocytoses Of Mononuclear Phagocytes
Haemophagocytic Lymphohistiocytosis Nos

Chordoma

CHDM	Notochordoma
Notochordal Sarcoma	Chordoma, Susceptibility To
Chordocarcinoma	Chordoepithelioma

Hepatic Venoocclusive Disease With Immunodeficiency

VODI	Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatic Veno-Occlusive Disease With Immunodeficiency	Familial Veno-Occlusive Disease With Immunodeficiency
Veno-Occlusive Disease And Immunodeficiency Syndrome	Vodi Syndrome
Vodi - [Veno-Occlusive Disease Immunodeficiency] Syndrome

Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A11	Mddga11
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease B3galnt2-Related	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A11

Hemophagocytic Lymphohistiocytosis, Familial, 4

Familial Hemophagocytic Lymphohistiocytosis 4	FHL4
Hplh4	Hlh4
Lymphohistiocytosis, Hemophagocytic, Familial, Type 4

Gray Platelet Syndrome

Platelet Alpha-Granule Deficiency	GPS
Bdplt4	Bleeding Disorder, Platelet-Type, 4
Grey Platelet Syndrome	Platelet-Type Bleeding Disorder 4
Marked Decrease Or Absence Of Alpha-Granules And Of Platelet-Specific Alpha-Granule Proteins	Deficient Alpha Granule Syndrome
Platelet Alpha Granule Deficiency	Platelet Granule Defect
Alpha Storage Pool Deficiency	Bleeding Disorder Platelet-Type 4

Familial Hemophagocytic Lymphohistiocytosis 5

Fhl5	Hlh5
Hplh5	Lymphohistiocytosis, Hemophagocytic, Familial, Type 5

Lymphoproliferative Syndrome, X-Linked, 1

Lymphomatoid Papulosis	Duncan Disease
Purtilo Syndrome	X-Linked Lymphoproliferative Syndrome
Xlp	X-Linked Lymphoproliferative Disease
XLP1	Lyp
Lymphoproliferative Disease, X-Linked	Xlpd
X-Linked Lymphoproliferative Disease Due To Sh2d1a Deficiency	Ebv Infection, Severe, Susceptibility To
Ebvs	Immunodeficiency 5
Imd5	X-Linked Lymphoproliferative Syndrome 1
Epstein-Barr Virus Infection, Familial Fatal	Ebv Infection, Severe
Infectious Mononucleosis, Severe	Infectious Mononucleosis, Severe, Susceptibility To
Immunodeficiency, X-Linked Progressive Combined Variable	Epstein Barr Virus Infection, Familial Fatal
X-Linked Progressive Combined Variable Immunodeficiency 5	Epstein-Barr Virus-Induced Lymphoproliferative Disease In Males
Familial Fatal Epstein-Barr Infection	Severe Susceptibility To Ebv Infection
Severe Susceptibility To Infectious Mononucleosis	Sap Deficiency
Sh2d1a/Slam-Associated Protein Deficiency	X-Linked Lymphoproliferative Syndrome Type 1
X-Linked Progressive Combined Variable Immunodeficiency	Lymphoproliferative Syndrome, X-Linked
Sap	X-Linked Lymphoproliferative Disorder

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

Spastic Paraplegia 55, Autosomal Recessive

SPG55	Hereditary Spastic Paraplegia 55
Autosomal Recessive Spastic Paraplegia Type 55	Autosomal Recessive Spastic Paraplegia 55
Paraplegia, Spastic, Autosomal Recessive, Type 55

Hermansky-Pudlak Syndrome

Hps	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Hermanski-Pudlak Syndrome	Hermansky Pudlak Syndrome
Platelet Storage Pool Deficiency

Papillon-Lefevre Syndrome

Papillon-Lefevre Disease	Papillon-Lefèvre Syndrome
PLS	Keratosis Palmoplantaris With Periodontopathia
PALS	Papillon Lefevre Syndrome
Keratosis Palmoplantar-Periodontopathy Syndrome	Papillon-Lefvre Syndrome
Hyperkeratosis Palmoplantaris With Periodontosis	Keratoris Palmoplantaris With Periodontopathia
Keratosis Palmoplantar - Periodontopathy	Palmar-Plantar Hyperkeratosis And Concomitant Periodontal Destruction
Palmoplantar Keratoderma With Periodontosis	Palsy

Severe Congenital Neutropenia

Congenital Neutropenia	Neutropenia, Severe Congenital
Congenital Agranulocytosis	Infantile Genetic Agranulocytosis
Kostmann Disease	Kostmann'S Agranulocytosis
Kostmann'S Syndrome	Severe Infantile Genetic Neutropenia

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07928	LYST Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	LYST	VGNC	VGNC:63349
Mus musculus	LYST	MGD	MGI:107448
Macaca mulatta	LYST	VGNC	VGNC:100005
Bos taurus	LYST	VGNC	VGNC:31115
Canis familiaris	LYST	VGNC	VGNC:42899
Rattus norvegicus	LYST	RGD	RGD:621837