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GPLD1 Gene(Protein Coding)

Glycosylphosphatidylinositol Specific Phospholipase D1

GCID:
GC06M024425
GIFtS:
49
Genes Participants
UDN Logo

Aliases for GPLD1 Gene

Aliases for GPLD1 Gene

  • Glycosylphosphatidylinositol Specific Phospholipase D1 2 3 5
  • Glycoprotein Phospholipase D 3 4
  • GPI-Specific Phospholipase D 3 4
  • EC 3.1.4.50 4 56
  • PI-G PLD 3 4
  • GPI-PLD 3 4
  • PIGPLD1 3 4
  • Glycosyl-Phosphatidylinositol-Specific Phospholipase D 4
  • Phosphatidylinositol-Glycan-Specific Phospholipase D 3
  • GPIPLDM 3
  • GPIPLD 3
  • PIGPLD 3
  • PLD 3

External Ids for GPLD1 Gene

Previous GeneCards Identifiers for GPLD1 Gene

  • GC06M024485
  • GC06M024536
  • GC06M024377

Summaries for GPLD1 Gene

Entrez Gene Summary for GPLD1 Gene

  • Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008]

GeneCards Summary for GPLD1 Gene

GPLD1 (Glycosylphosphatidylinositol Specific Phospholipase D1) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include sodium channel regulator activity and glycosylphosphatidylinositol phospholipase D activity.

UniProtKB/Swiss-Prot for GPLD1 Gene

  • This protein hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans (GPI-anchor) thus releasing these proteins from the membrane.

Gene Wiki entry for GPLD1 Gene

Additional gene information for GPLD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPLD1 Gene

Genomics for GPLD1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for GPLD1 Gene

Promoters and enhancers for GPLD1 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
GH06I024494 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.0 3 1.6 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF143 ZNF207 MXD4 ALDH5A1 GPLD1
GH06I024489 Promoter 0.9 EPDnew 550.4 +5.6 5614 0.1 RXRA MAX REST YY1 JUND ATF3 HNF4A ZBTB33 GPLD1 ALDH5A1 PIR53932
GH06I024522 Enhancer 1.1 Ensembl ENCODE 12.3 -27.3 -27334 0.9 BATF E2F8 ATF7 IKZF2 RUNX3 CAVIN1 ZBTB11 USF2 HDAC8 ZNF592 ALDH5A1 GPLD1 ACOT13 TDP2 PIR52732
GH06I024583 Enhancer 1.2 Ensembl ENCODE 10.5 -89.1 -89073 2 PKNOX1 ARNT FEZF1 ZNF2 ZNF121 ZNF213 ZNF143 ZNF207 KLF7 RUNX3 PIR39702 PIR60469 ACOT13 KIAA0319 TDP2 GPLD1 ALDH5A1
GH06I024689 Enhancer 0.8 dbSUPER 10.7 -197.7 -197657 6.3 FOXA2 ZNF133 YBX1 FEZF1 ZNF2 RAD21 YY1 ZNF121 ARID2 EGR1 TDP2 KIAA0319 C6orf62 ACOT13 GPLD1 ALDH5A1 ENSG00000272345
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GPLD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GPLD1 gene promoter:

Genomic Locations for GPLD1 Gene

Genomic Locations for GPLD1 Gene
chr6:24,424,565-24,495,205
(GRCh38/hg38)
Size:
70,641 bases
Orientation:
Minus strand
chr6:24,424,793-24,495,433
(GRCh37/hg19)

Genomic View for GPLD1 Gene

Genes around GPLD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPLD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPLD1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GPLD1 Gene

Proteins for GPLD1 Gene

Products:

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  • Protein details for GPLD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P80108-PHLD_HUMAN
    Recommended name:
    Phosphatidylinositol-glycan-specific phospholipase D
    Protein Accession:
    P80108
    Secondary Accessions:
    • Q15127
    • Q15128
    • Q2M2F2
    • Q5T3Y0
    • Q7Z6T8
    • Q8TCV0
    • Q8WW82
    • Q96ID6
    • Q9H167
    • Q9H4M1
    • Q9UJC9

    Protein attributes for GPLD1 Gene

    Size:
    840 amino acids
    Molecular mass:
    92336 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAA36444.1; Type=Miscellaneous discrepancy; Note=This sequence has numerous of conflicts with the human genome.; Evidence={ECO:0000305};

    Alternative splice isoforms for GPLD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GPLD1 Gene

Protein Expression for GPLD1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for GPLD1 Gene

P80108:
  • HQDAYQAG
  • CNLPENPLFI
  • AGDFGGDVLSQFEF
  • DGLDEII

Post-translational modifications for GPLD1 Gene

  • Glycosylation at isoforms=294, posLast=271271, posLast=292292, posLast=307307, posLast=321321, isoforms=501, posLast=568568, isoforms=591, isoforms=604, and isoforms=659

Other Protein References for GPLD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GPLD1 Gene

Gene Families for GPLD1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for GPLD1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GPLD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P80108

UniProtKB/Swiss-Prot:

PHLD_HUMAN :
  • Belongs to the GPLD1 family.
Family:
  • Belongs to the GPLD1 family.
genes like me logo Genes that share domains with GPLD1: view

Function for GPLD1 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for GPLD1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
6-(alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol + H(2)O = 6-(alpha-D-glucosaminyl)-1D-myo-inositol + phosphatidate.
UniProtKB/Swiss-Prot Function:
This protein hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans (GPI-anchor) thus releasing these proteins from the membrane.

Enzyme Numbers (IUBMB) for GPLD1 Gene

Phenotypes From GWAS Catalog for GPLD1 Gene

Gene Ontology (GO) - Molecular Function for GPLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004621 glycosylphosphatidylinositol phospholipase D activity TAS 2017684
GO:0004630 phospholipase D activity IDA 2760042
GO:0016787 hydrolase activity IEA --
GO:0017080 sodium channel regulator activity ISS --
genes like me logo Genes that share ontologies with GPLD1: view
genes like me logo Genes that share phenotypes with GPLD1: view

Animal Models for GPLD1 Gene

MGI Knock Outs for GPLD1:

Animal Model Products

CRISPR Products

miRNA for GPLD1 Gene

miRTarBase miRNAs that target GPLD1

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GPLD1 Gene

Localization for GPLD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPLD1 Gene

Secreted.

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 GPLD1 gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 3
cytosol 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GPLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix ISS --
GO:0005615 extracellular space IDA 1833386
GO:0005622 intracellular IDA 15907827
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with GPLD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GPLD1 Gene

Pathways & Interactions for GPLD1 Gene

genes like me logo Genes that share pathways with GPLD1: view

Gene Ontology (GO) - Biological Process for GPLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification ISS --
GO:0002042 cell migration involved in sprouting angiogenesis IMP 17720976
GO:0002062 chondrocyte differentiation ISS --
GO:0002430 complement receptor mediated signaling pathway IDA 15907827
GO:0006501 C-terminal protein lipidation TAS --
genes like me logo Genes that share ontologies with GPLD1: view

No data available for SIGNOR curated interactions for GPLD1 Gene

Drugs & Compounds for GPLD1 Gene

Products:

  1. Drug

(10) Drugs for GPLD1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0

(30) Additional Compounds for GPLD1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
6-(alpha-D-Glucosaminyl)-1D-myo-inositol
  • (1R,2R,3R,4R,5R,6S)-2,3,4,5,6-pentahydroxycyclohexyl 2-amino-2-deoxy-alpha-D-glucopyranoside
  • (1R,2R,3R,4R,5R,6S)-2,3,4,5,6-pentahydroxycyclohexyl 2-amino-2-deoxy-alpha-delta-glucopyranoside
  • 6-O-(2-Amino-2-deoxy-alpha-D-glucopyranosyl)-1D-myo-inositol
  • 6-O-(2-Amino-2-deoxy-alpha-delta-glucopyranosyl)-1D-myo-inositol
  • Glucosaminyl-(alpha-6)-D-myo-inositol
PA(16:0/16:0)
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphorate
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphoric acid
  • 1,2-Dihexadecanoyl-rac-phosphatidic acid
  • 1,2-Dipalmitoyl-3-sn-phosphatidate
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
 7091-44-3
PA(16:0/18:1(11Z))
  • 1-Hexadecanoyl-2-(11Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-vaccenoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n7)
  • PA(16:0/18:1w7)
PA(16:0/18:1(9Z))
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-oleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n9)
  • PA(16:0/18:1w9)
PA(16:0/18:2(9Z,12Z))
  • 1-Hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
  • PA(16:0/18:2n6)
  • PA(16:0/18:2w6)
genes like me logo Genes that share compounds with GPLD1: view

Transcripts for GPLD1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for GPLD1 Gene

(5) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(84) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GPLD1 Gene

Glycosylphosphatidylinositol specific phospholipase D1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GPLD1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - -
SP2:
SP3: -
SP4:

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26
SP1:
SP2:
SP3:
SP4:

Relevant External Links for GPLD1 Gene

GeneLoc Exon Structure for
GPLD1
ECgene alternative splicing isoforms for
GPLD1

Expression for GPLD1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GPLD1 Gene

mRNA expression in normal human tissues for GPLD1 Gene
mRNA expression by BioGPS for GPLD1 GenemRNA expression by GTEx for GPLD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GPLD1 Gene

This gene is overexpressed in Liver (x8.5), Brain - Cerebellar Hemisphere (x5.2), and Brain - Cerebellum (x5.0).

Protein differential expression in normal tissues from HIPED for GPLD1 Gene

This gene is overexpressed in Serum (32.0), Plasma (15.3), and Synovial fluid (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GPLD1 Gene



Protein tissue co-expression partners for GPLD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GPLD1 Gene:

GPLD1

SOURCE GeneReport for Unigene cluster for GPLD1 Gene:

Hs.533291

Evidence on tissue expression from TISSUES for GPLD1 Gene

  • Liver(4.5)
  • Pancreas(4.3)
  • Bone marrow(4.2)
  • Eye(4)
genes like me logo Genes that share expression patterns with GPLD1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GPLD1 Gene

Orthologs for GPLD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GPLD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia GPLD1 33 34
  • 98.25 (n)
cow
(Bos Taurus)
 Mammalia GPLD1 33 34
  • 84.62 (n)
dog
(Canis familiaris)
 Mammalia GPLD1 33 34
  • 84.55 (n)
rat
(Rattus norvegicus)
 Mammalia Gpld1 33
  • 81.31 (n)
mouse
(Mus musculus)
 Mammalia Gpld1 33 16 34
  • 80.4 (n)
oppossum
(Monodelphis domestica)
 Mammalia GPLD1 34
  • 69 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia GPLD1 34
  • 63 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves GPLD1 33 34
  • 65.83 (n)
lizard
(Anolis carolinensis)
 Reptilia GPLD1 34
  • 59 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100493339 33
  • 63.94 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes -- 34
  • 18 (a)
 OneToOne
-- 36
Species where no ortholog for GPLD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GPLD1 Gene

ENSEMBL:
Gene Tree for GPLD1 (if available)
TreeFam:
Gene Tree for GPLD1 (if available)

Paralogs for GPLD1 Gene

No data available for Paralogs for GPLD1 Gene

Variants for GPLD1 Gene

Sequence variations from dbSNP and Humsavar for GPLD1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs185042766 likely-benign, benign, Succinate-semialdehyde dehydrogenase deficiency, not provided 24,495,126(-) C/G 5_prime_UTR_variant, genic_upstream_transcript_variant
rs200398000 likely-benign, Succinate-semialdehyde dehydrogenase deficiency 24,495,009(-) A/G genic_upstream_transcript_variant, initiator_codon_variant, missense_variant
rs200793796 benign, conflicting-interpretations-of-pathogenicity, not specified, Succinate-semialdehyde dehydrogenase deficiency 24,495,006(-) T/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs371548862 likely-benign, Succinate-semialdehyde dehydrogenase deficiency 24,495,164(-) G/C upstream_transcript_variant
rs371923295 likely-benign, Succinate-semialdehyde dehydrogenase deficiency 24,495,058(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for GPLD1 Gene

Variant ID Type Subtype PubMed ID
esv2229610 CNV deletion 18987734
esv2731712 CNV deletion 23290073
esv2763542 CNV gain 21179565
esv34020 CNV loss 18971310
esv3608368 CNV loss 21293372
nsv1026638 CNV gain 25217958
nsv476616 CNV novel sequence insertion 20440878
nsv515988 CNV loss 19592680
nsv519552 CNV gain 19592680
nsv525943 CNV loss 19592680
nsv820266 CNV gain 19587683

Variation tolerance for GPLD1 Gene

Residual Variation Intolerance Score: 82% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.80; 73.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPLD1 Gene

Human Gene Mutation Database (HGMD)
GPLD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPLD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPLD1 Gene

Disorders for GPLD1 Gene

Additional Disease Information for GPLD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for GPLD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GPLD1 Gene

Publications for GPLD1 Gene

  1. Structure and expression of the human glycosylphosphatidylinositol phospholipase D1 (GPLD1) gene. (PMID: 11072085) Schofield JN … Rademacher TW (Biochimica et biophysica acta 2000) 2 3 4 22 58
  2. Phosphatidylinositol-glycan-specific phospholipase D is an amphiphilic glycoprotein that in serum is associated with high-density lipoproteins. (PMID: 1606959) Hoener MC … Brodbeck U (European journal of biochemistry 1992) 3 4 22 58
  3. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PMID: 22001757) Chambers JC … Kooner JS (Nature genetics 2011) 3 44 58
  4. [Expression and activity of glycosylphosphatidylinositol-specific phospholipase d mRNA in bone marrow mononuclear cells isolated from patient with acute myeloid leukemia and their significance]. (PMID: 20137110) Xiao GF … Zeng C (Zhongguo shi yan xue ye xue za zhi 2010) 3 22 58
  5. PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease. (PMID: 20648472) Speliotes EK … Hirschhorn JN (Hepatology (Baltimore, Md.) 2010) 3 44 58

Products for GPLD1 Gene

Sources for GPLD1 Gene

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