LYST (lysosomal trafficking regulator)

2016-10-01  

Identity

HGNC
LYST
LOCATION
1q42.3
LOCUSID
1130
ALIAS
CHS,CHS1,Mauve
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1130
MIM: 606897
HGNC: 1968
Ensembl: ENSG00000143669

Variants:

dbSNP: 1130
ClinVar: 1130
TCGA: ENSG00000143669
COSMIC: LYST

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143669ENST00000389793Q99698
ENSG00000143669ENST00000389794A0A0A0MRZ6
ENSG00000143669ENST00000487530H7C4F5

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
377889052024Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.1
377889052024Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.1
367074272023LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.6
382826192023Lysosomal trafficking regulator restricts intracellular growth of Coxiella burnetii by inhibiting the expansion of Coxiella-containing vacuole and upregulating nos2 expression.0
367074272023LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.6
382826192023Lysosomal trafficking regulator restricts intracellular growth of Coxiella burnetii by inhibiting the expansion of Coxiella-containing vacuole and upregulating nos2 expression.0
344833402022Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia.1
344833402022Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia.1
319068772020Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.3
319068772020Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.3
317955672019[A novel mutation of the LYST gene in a Chinese family with Chediak-Higashi syndrome].0
317955672019[A novel mutation of the LYST gene in a Chinese family with Chediak-Higashi syndrome].0
296529892018[Analysis of clinical characteristics and genetic mutation in a pedigree affected with Chediak-Higashi syndrome].0
296529892018[Analysis of clinical characteristics and genetic mutation in a pedigree affected with Chediak-Higashi syndrome].0
277813872017Clinical presentation and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in China: A retrospective multicenter study.29

Citation

Dessen P

LYST (lysosomal trafficking regulator)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56541