GLA (galactosidase alpha)

2016-10-01 Affiliation

Identity

HGNC

GLA

LOCATION

Xq22.1

LOCUSID

2717

ALIAS

GALA

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 2717
MIM: 300644
HGNC: 4296
Ensembl: ENSG00000102393

Variants:

dbSNP: 2717
ClinVar: 2717
TCGA: ENSG00000102393
COSMIC: GLA

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000102393	ENST00000218516	P06280
ENSG00000102393	ENST00000218516	Q53Y83
ENSG00000102393	ENST00000480513	A0A3B3IRU3
ENSG00000102393	ENST00000493905	V9GYN5
ENSG00000102393	ENST00000649178	A0A3B3IUC4

Expression (GTEx)

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

Pathways

Pathway	Source	External ID
Galactose metabolism	KEGG	ko00052
Glycerolipid metabolism	KEGG	ko00561
Sphingolipid metabolism	KEGG	ko00600
Galactose metabolism	KEGG	hsa00052
Glycerolipid metabolism	KEGG	hsa00561
Sphingolipid metabolism	KEGG	hsa00600
Glycosphingolipid biosynthesis - globo and isoglobo series	KEGG	hsa00603
Lysosome	KEGG	ko04142
Lysosome	KEGG	hsa04142
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Sphingolipid metabolism	REACTOME	R-HSA-428157
Glycosphingolipid metabolism	REACTOME	R-HSA-1660662
Neutrophil degranulation	REACTOME	R-HSA-6798695

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD
PA162375571	ACTC1	Gene	DataAnnotation	associated
PA166182881	migalastat	Chemical	ClinicalAnnotation, LabelAnnotation	associated	PD
PA231	LMNA	Gene	DataAnnotation	associated
PA31351	MYBPC3	Gene	DataAnnotation	associated
PA31374	MYH7	Gene	DataAnnotation	associated
PA31380	MYL2	Gene	DataAnnotation	associated
PA31381	MYL3	Gene	DataAnnotation	associated
PA33752	PRKAG2	Gene	DataAnnotation	associated
PA36636	TNNI3	Gene	DataAnnotation	associated
PA36638	TNNT2	Gene	DataAnnotation	associated
PA36690	TPM1	Gene	DataAnnotation	associated
PA443367	Fabry Disease	Disease	ClinicalAnnotation	associated	PD
PA443632	Cardiomyopathy, Dilated	Disease	DataAnnotation	associated
PA443633	Cardiomyopathy, Hypertrophic	Disease	DataAnnotation	associated

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
19621417	2009	Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).	67
20031620	2009	High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.	54
17555407	2007	Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.	48
27834756	2017	Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.	44
16531566	2006	Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants.	41
27238910	2016	Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.	41
16754800	2006	Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study.	36
11828341	2002	Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.	35
16595074	2006	Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.	33

Citation

Dessen P

GLA (galactosidase alpha)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56112/gla