This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which cau... See more...

Aliases for GLA Gene

Aliases for GLA Gene

  • Galactosidase Alpha 2 3 5
  • Alpha-D-Galactosidase A 3 4
  • Alpha-Galactosidase A 3 4
  • EC 3.2.1.22 4 52
  • Melibiase 3 4
  • Alpha-D-Galactoside Galactohydrolase 1 3
  • Alpha-D-Galactoside Galactohydrolase 4
  • Agalsidase Alfa 3
  • Alpha-Gal A 3
  • Agalsidase 4
  • EC 3.2.1 52
  • GALA 3

External Ids for GLA Gene

Previous GeneCards Identifiers for GLA Gene

  • GC0XM095944
  • GC0XM097623
  • GC0XM098688
  • GC0XM099424
  • GC0XM100458
  • GC0XM100539
  • GC0XM100652
  • GC0XM090459

Summaries for GLA Gene

Entrez Gene Summary for GLA Gene

  • This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]

GeneCards Summary for GLA Gene

GLA (Galactosidase Alpha) is a Protein Coding gene. Diseases associated with GLA include Fabry Disease and Rare Cardiomyopathy. Among its related pathways are Innate Immune System and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and hydrolase activity. An important paralog of this gene is NAGA.

Gene Wiki entry for GLA Gene

Additional gene information for GLA Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GLA Gene

Genomics for GLA Gene

GeneHancer (GH) Regulatory Elements for GLA Gene

Promoters and enhancers for GLA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ101406 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 523 -0.5 -511 5.4 FOXK2 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 POLR2G USF1 GLA HNRNPH2 ARMCX4 PPIAP90 ARMCX1 ENSG00000261101 lnc-ARMCX4-2 RPL36A-HNRNPH2 lnc-ARMCX4-3
GH0XJ101383 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE 9.3 +22.7 22733 3.8 NRF1 CTBP1 MYC TRIM22 POLR2A NFYB NCOR1 NFRKB KDM5B MBD2 BTK lnc-BTK-1 lnc-ARMCX4-3 ARMCX4 ARL13A GLA BEX5 ARMCX3
GH0XJ101414 Enhancer 0.6 ENCODE 14.2 -7.7 -7666 1.8 CTCF REST RAD21 TRIM22 SMC3 POLR2A ZNF207 ZFHX2 ZNF654 ATF2 lnc-ARMCX4-2 GLA ARMCX4 HNRNPH2 lnc-ARMCX4-3
GH0XJ101429 Enhancer 0.5 Ensembl 17.4 -22.8 -22788 2 JUND FOS BATF HMBOX1 CBFA2T3 RUNX3 GLA ARMCX4 ARMCX6 BTK RF00017-8592 piR-52879-021 lnc-ARMCX4-3
GH0XJ101376 Enhancer 0.3 Ensembl 10.8 +30.0 30013 2.4 SPI1 RF00017-8589 ARMCX4 BEX5 GLA lnc-BTK-1 BTK RF00017-8588
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLA on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GLA

Top Transcription factor binding sites by QIAGEN in the GLA gene promoter:
  • C/EBPbeta
  • CREB
  • deltaCREB
  • GATA-2
  • HOXA9
  • HOXA9B
  • IRF-2
  • Meis-1
  • p53
  • STAT3

Genomic Locations for GLA Gene

Genomic Locations for GLA Gene
chrX:101,397,791-101,408,013
(GRCh38/hg38)
Size:
10,223 bases
Orientation:
Minus strand
chrX:100,652,779-100,663,001
(GRCh37/hg19)
Size:
10,223 bases
Orientation:
Minus strand

Genomic View for GLA Gene

Genes around GLA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLA Gene

Proteins for GLA Gene

  • Protein details for GLA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06280-AGAL_HUMAN
    Recommended name:
    Alpha-galactosidase A
    Protein Accession:
    P06280
    Secondary Accessions:
    • Q6LER7

    Protein attributes for GLA Gene

    Size:
    429 amino acids
    Molecular mass:
    48767 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for GLA Gene

neXtProt entry for GLA Gene

Selected DME Specific Peptides for GLA Gene

P06280:
  • VIAINQD
  • GLKLGIY
  • WNDPDML

Post-translational modifications for GLA Gene

  • Glycosylation at Asn139, Asn192, and Asn215
  • Ubiquitination at Lys240, Lys326, and Lys393
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for GLA Gene

Domains & Families for GLA Gene

Gene Families for GLA Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for GLA Gene

Blocks:
  • Glycosyl hydrolase family 27 signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GLA Gene

GenScript: Design optimal peptide antigens:
  • Melibiase (AGAL_HUMAN)
  • cDNA FLJ76285, highly similar to Homo sapiens galactosidase, alpha (GLA), mRNA (Q53Y83_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P06280

UniProtKB/Swiss-Prot:

AGAL_HUMAN :
  • Belongs to the glycosyl hydrolase 27 family.
Family:
  • Belongs to the glycosyl hydrolase 27 family.
genes like me logo Genes that share domains with GLA: view

Function for GLA Gene

Molecular function for GLA Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactolipids.; EC=3.2.1.22; Evidence=. ;.
GENATLAS Biochemistry:
galactosidase,alpha

Enzyme Numbers (IUBMB) for GLA Gene

Gene Ontology (GO) - Molecular Function for GLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IDA --
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0004557 alpha-galactosidase activity IMP,IBA 16372133
GO:0005102 signaling receptor binding IDA 1332979
GO:0005515 protein binding IPI 1332979
genes like me logo Genes that share ontologies with GLA: view
genes like me logo Genes that share phenotypes with GLA: view

Human Phenotype Ontology for GLA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GLA Gene

MGI Knock Outs for GLA:
  • Gla Gla<tm1Kul>

Animal Model Products

  • Taconic Biosciences Mouse Models for GLA

CRISPR Products

Clone Products

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for GLA Gene

Localization for GLA Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLA Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GLA gene
Compartment Confidence
extracellular 5
lysosome 5
golgi apparatus 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for GLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IBA,IMP 1332979
GO:0005764 lysosome TAS 3029062
GO:0005794 Golgi apparatus IMP 1332979
GO:0035578 azurophil granule lumen TAS --
genes like me logo Genes that share ontologies with GLA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GLA Gene

Pathways & Interactions for GLA Gene

genes like me logo Genes that share pathways with GLA: view

Pathways by source for GLA Gene

Gene Ontology (GO) - Biological Process for GLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0008152 metabolic process IEA --
GO:0009311 oligosaccharide metabolic process IDA --
GO:0016139 glycoside catabolic process IBA 21873635
genes like me logo Genes that share ontologies with GLA: view

No data available for SIGNOR curated interactions for GLA Gene

Drugs & Compounds for GLA Gene

(62) Drugs for GLA Gene - From: DrugBank, PharmGKB, ClinicalTrials, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Migalastat Approved, Investigational Pharma Target, modulator 0
Furan Approved, Experimental, Investigational Pharma 0
Galactose Approved, Investigational Pharma 0
Aluminum hydroxide Approved, Investigational Pharma 247
D-glucose Approved, Investigational, Vet_approved Pharma 0

(72) Additional Compounds for GLA Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
melibiose
  • 6-O-(alpha-D-Galactopyranosyl)-D-mannopyranose
  • 6-O-alpha-D-Mannopyranosyl-alpha-D-galactopyranose
  • 6-O-(a-D-Galactopyranosyl)-D-mannopyranose
  • 6-O-(α-D-galactopyranosyl)-D-mannopyranose
  • 6-O-a-D-Mannopyranosyl-a-D-galactopyranose
585-99-9, 499-40-1
raffinose
  • 6g-alpha-D-Galactosylsucrose
  • 6g-alpha-delta-Galactosylsucrose
  • D-(+)-Raffinose
  • D-Raffinose
  • delta-(+)-Raffinose
512-69-6, 25954-44-3
stachyose
  • alpha-D-Galp-(1->6)-alpha-D-galp-(1->6)-alpha-D-GLCP-(12)-beta-D-fruf
  • O-alpha-D-Galactopyranosyl-(1->6)O-alpha-D-galactopyranosyl-(1->6)O-alpha-D-galactopyranosyl-beta-D-fructofuranoside
  • a-D-Galp-(1->6)-a-D-galp-(1->6)-a-D-GLCP-(12)-b-D-fruf
  • α-D-galp-(1->6)-α-D-galp-(1->6)-α-D-GLCP-(12)-β-D-fruf
  • O-a-D-Galactopyranosyl-(1->6)O-a-D-galactopyranosyl-(1->6)O-a-D-galactopyranosyl-b-D-fructofuranoside
470-55-3
1,2-Di-(9Z,12Z,15Z-octadecatrienoyl)-3-(Galactosyl-alpha-1-6-Galactosyl-beta-1)-glycerol
  • 1,2 Di-(9Z,12Z,15Z-octadecatrienoyl)-3-( gal alpha 1-6gal beta 1)-sn-glycerol
  • 1,2 Di-(9Z,12Z,15Z-octadecatrienoyl)-3-(gal alpha 1-6gal beta 1)-sn-glycerol
  • 1,2 Di-(9Z,12Z,15Z-octadecatrienoyl)-3-(gala1-6galb1)-sn-glycerol
  • [2-[(9Z,12Z,15Z)-Octadeca-9,12,15-trienoyl]oxy-3-[(2R,3R,4S,5R,6R)-3,4,5-trihydroxy-6-[[(2S,3R,4S,5R,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)tetrahydropyran-2-yl]oxymethyl]tetrahydropyran-2-yl]oxy-propyl] (9Z,12Z,15Z)-octadeca-9,12,15-trienoate
  • [2-[(9Z,12Z,15Z)-Octadeca-9,12,15-trienoyl]oxy-3-[(2R,3R,4S,5R,6R)-3,4,5-trihydroxy-6-[[(2S,3R,4S,5R,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)tetrahydropyran-2-yl]oxymethyl]tetrahydropyran-2-yl]oxy-propyl] (9Z,12Z,15Z)-octadeca-9,12,15-trienoic acid
1,2-Dioctadecanoyl-3-(galactosyl-B-1-6-galactosyl-B-1)-glycerol
  • 1,2-Dioctadecanoyl-3-(GLCB1-6GLCB1)-sn-glycerol
  • DGDG
  • Digalactosyl diacyl glycerol
  • [(2S)-1-Octadecanoyloxy-3-[(2R,3S,4S,5R,6S)-3,4,5-trihydroxy-6-[[(2S,3R,4S,5R,6S)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxymethyl]oxan-2-yl]oxypropan-2-yl] octadecanoate
  • [(2S)-1-Octadecanoyloxy-3-[(2R,3S,4S,5R,6S)-3,4,5-trihydroxy-6-[[(2S,3R,4S,5R,6S)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxymethyl]oxan-2-yl]oxypropan-2-yl] octadecanoic acid
genes like me logo Genes that share compounds with GLA: view

Transcripts for GLA Gene

mRNA/cDNA for GLA Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GLA Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b
SP1: - - - - -
SP2: - - - -
SP3: - -
SP4: - - - -
SP5: - - - -
SP6:
SP7:
SP8:

Relevant External Links for GLA Gene

GeneLoc Exon Structure for
GLA

Expression for GLA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GLA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GLA Gene

This gene is overexpressed in Whole Blood (x6.1).

Protein differential expression in normal tissues from HIPED for GLA Gene

This gene is overexpressed in Urine (10.9), Seminal vesicle (10.4), Fetal gut (7.6), and Adrenal (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GLA Gene



Protein tissue co-expression partners for GLA Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GLA

SOURCE GeneReport for Unigene cluster for GLA Gene:

Hs.69089

Evidence on tissue expression from TISSUES for GLA Gene

  • Lung(4.7)
  • Blood(4.5)
  • Liver(4.3)
  • Kidney(2.8)
  • Heart(2.5)
  • Nervous system(2.5)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GLA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • skull
Thorax:
  • aorta
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • urinary bladder
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • lymph node
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with GLA: view

No data available for mRNA Expression by UniProt/SwissProt for GLA Gene

Orthologs for GLA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GLA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLA 31 30
  • 99.53 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GLA 31 30
  • 88.32 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GLA 31 30
  • 87.01 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gla 30
  • 83.33 (n)
mouse
(Mus musculus)
Mammalia Gla 17 31 30
  • 82.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GLA 31
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 71 (a)
OneToMany
-- 31
  • 65 (a)
OneToMany
chicken
(Gallus gallus)
Aves GLA 31 30
  • 68.31 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLA 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gla 30
  • 65.22 (n)
zebrafish
(Danio rerio)
Actinopterygii gla 31 30
  • 64.02 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7997 31 32 30
  • 54.3 (n)
ManyToMany
CG5731 31 32
  • 46 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005846 30
  • 52.06 (n)
worm
(Caenorhabditis elegans)
Secernentea R07B7.11 32
  • 43 (a)
gana-1 31
  • 39 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AGAL2 30
  • 50.99 (n)
soybean
(Glycine max)
eudicotyledons Gma.5910 30
rice
(Oryza sativa)
Liliopsida Os10g0493600 30
  • 50.11 (n)
Os.17491 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mel1 30
  • 49.79 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 34 (a)
OneToMany
Species where no ortholog for GLA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GLA Gene

ENSEMBL:
Gene Tree for GLA (if available)
TreeFam:
Gene Tree for GLA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GLA: view image

Paralogs for GLA Gene

Paralogs for GLA Gene

(1) SIMAP similar genes for GLA Gene using alignment to 3 proteins:

  • AGAL_HUMAN
  • Q53Y83_HUMAN
  • V9GYN5_HUMAN
genes like me logo Genes that share paralogs with GLA: view

Variants for GLA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GLA Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
10720 Pathogenic: Fabry disease 101,398,369(-) C/A SPLICE_DONOR_VARIANT,INTRON_VARIANT
10749 Pathogenic: Fabry disease 101,407,766(-) GTGCAGCCAGCCCA/G FRAMESHIFT_VARIANT,INTRON_VARIANT
10752 Pathogenic: Fabry disease 101,398,414(-) T/TGGCAA FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
10753 Pathogenic: Fabry disease 101,398,071(-) GGTCGTTCCCAC/G FRAMESHIFT_VARIANT,INTRON_VARIANT
10755 Pathogenic: Fabry disease 101,397,922(-) TCCTTTTCACAGGGAG FRAMESHIFT_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for GLA Gene

Variation tolerance for GLA Gene

Residual Variation Intolerance Score: 83.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.63; 56.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GLA Gene

Human Gene Mutation Database (HGMD)
GLA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GLA Gene

Disorders for GLA Gene

MalaCards: The human disease database

(47) MalaCards diseases for GLA Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fabry disease
  • angiokeratoma corporis diffusum
rare cardiomyopathy
hypertrophic cardiomyopathy
  • cardiomyopathy, hypertrophic, familial
atrial standstill 1
  • atrst1
angiokeratoma
  • angiokeratoma of skin
- elite association - COSMIC cancer census association via MalaCards
Search GLA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AGAL_HUMAN
  • Fabry disease (FD) [MIM:301500]: Rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities. {ECO:0000269 PubMed:10090526, ECO:0000269 PubMed:10208848, ECO:0000269 PubMed:10666480, ECO:0000269 PubMed:10838196, ECO:0000269 PubMed:10916280, ECO:0000269 PubMed:11076046, ECO:0000269 PubMed:11295840, ECO:0000269 PubMed:11668641, ECO:0000269 PubMed:11889412, ECO:0000269 PubMed:12694230, ECO:0000269 PubMed:12786754, ECO:0000269 PubMed:1315715, ECO:0000269 PubMed:15162124, ECO:0000269 PubMed:15712228, ECO:0000269 PubMed:16533976, ECO:0000269 PubMed:1846223, ECO:0000269 PubMed:19621417, ECO:0000269 PubMed:2152885, ECO:0000269 PubMed:2171331, ECO:0000269 PubMed:2539398, ECO:0000269 PubMed:26415523, ECO:0000269 PubMed:27142856, ECO:0000269 PubMed:27211852, ECO:0000269 PubMed:7504405, ECO:0000269 PubMed:7531540, ECO:0000269 PubMed:7575533, ECO:0000269 PubMed:7596372, ECO:0000269 PubMed:7599642, ECO:0000269 PubMed:7759078, ECO:0000269 PubMed:8069316, ECO:0000269 PubMed:8395937, ECO:0000269 PubMed:8738659, ECO:0000269 PubMed:8807334, ECO:0000269 PubMed:8834244, ECO:0000269 PubMed:8863162, ECO:0000269 PubMed:8875188, ECO:0000269 PubMed:8931708, ECO:0000269 PubMed:9100224, ECO:0000269 PubMed:9105656, ECO:0000269 PubMed:9452068, ECO:0000269 PubMed:9452090, ECO:0000269 PubMed:9452111, ECO:0000269 PubMed:9554750}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GLA Gene

diffuse angiokeratoderma,Fabry disease,typical and atypical

Additional Disease Information for GLA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GLA: view

Publications for GLA Gene

  1. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). (PMID: 19621417) Hwu WL … Hsu LW (Human mutation 2009) 3 4 23 41 54
  2. Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients. (PMID: 20110537) Baptista MV … PORTuguese Young STROKE Investigators (Stroke 2010) 3 23 41 54
  3. Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population. (PMID: 17804462) Terryn W … De Schoenmakere G (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2008) 3 23 41 54
  4. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. (PMID: 15712228) Shabbeer J … Desnick RJ (Human mutation 2005) 3 4 23 54
  5. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease. (PMID: 15776423) Schäfer E … Gal A (Human mutation 2005) 3 23 41 54

Products for GLA Gene

Sources for GLA Gene