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Aliases for PIGN Gene

Aliases for PIGN Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class N 2 3 5
  • Phosphatidylinositol-Glycan Biosynthesis Class N Protein 3 4
  • MCD4 Homolog 3 4
  • PIG-N 3 4
  • MCD4 3 4
  • GPI Ethanolamine Phosphate Transferase 1 3
  • Phosphatidylinositol Glycan, Class N 2
  • EC 2.-.-.- 4
  • MCAHS1 3
  • MCAHS 3
  • MDC4 3

External Ids for PIGN Gene

Previous GeneCards Identifiers for PIGN Gene

  • GC18M059550
  • GC18M059684
  • GC18M057860
  • GC18M057862
  • GC18M056421
  • GC18M062043

Summaries for PIGN Gene

Entrez Gene Summary for PIGN Gene

  • This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]

GeneCards Summary for PIGN Gene

PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N) is a Protein Coding gene. Diseases associated with PIGN include Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 and Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome. Among its related pathways are Metabolism of proteins and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. Gene Ontology (GO) annotations related to this gene include transferase activity and sulfuric ester hydrolase activity.

UniProtKB/Swiss-Prot for PIGN Gene

  • Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome missegregation.

Additional gene information for PIGN Gene

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

Genomics for PIGN Gene

GeneHancer (GH) Regulatory Elements for PIGN Gene

Promoters and enhancers for PIGN 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
GH18I062185 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 586.6 -0.5 -544 3.9 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF143 ZNF207 PIGN KIAA1468 TNFRSF11A ENSG00000266900
GH18I062324 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 15.3 -140.7 -140744 6.7 PKNOX1 FEZF1 ZNF48 GLIS2 KLF7 RUNX3 KLF13 ZNF202 ZC3H11A ZSCAN16 TNFRSF11A ENSG00000267560 PIGN KIAA1468 ZCCHC2 ENSG00000266900 ENSG00000199867
GH18I061947 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +236.2 236170 6.1 PKNOX1 SMAD1 BMI1 BATF IRF4 ATF7 ETV6 FOS BCLAF1 IKZF2 PIGN KIAA1468 RPIAP1 LOC105372159 LOC105372158
GH18I062060 Enhancer 0.5 ENCODE 26.6 +125.5 125491 2.2 PKNOX1 ZNF692 ATF7 ATF2 PIGN KIAA1468 GC18P062067 LOC105372158
GH18I062287 Enhancer 0.8 Ensembl ENCODE 16 -101.1 -101062 1.7 SMARCA5 CHD4 JUNB BMI1 DPF2 IRF4 ZNF217 HNF1A IKZF1 IKZF2 TNFRSF11A PIGN ENSG00000199867 KIAA1468 ENSG00000267560 ENSG00000266900
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PIGN on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PIGN Gene

Genomic Locations for PIGN Gene
chr18:61,905,255-62,187,118
(GRCh38/hg38)
Size:
281,864 bases
Orientation:
Minus strand
chr18:59,710,800-59,854,351
(GRCh37/hg19)

Genomic View for PIGN Gene

Genes around PIGN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PIGN Gene

Proteins for PIGN Gene

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

    Protein Symbol:
    O95427-PIGN_HUMAN
    Recommended name:
    GPI ethanolamine phosphate transferase 1
    Protein Accession:
    O95427
    Secondary Accessions:
    • Q7L8F8
    • Q8TC01
    • Q9NT05

    Protein attributes for PIGN Gene

    Size:
    931 amino acids
    Molecular mass:
    105810 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PIGN Gene

Post-translational modifications for PIGN Gene

  • Ubiquitination at Lys397
  • Glycosylation at isoforms=128, Asn192, and isoforms=350

No data available for DME Specific Peptides for PIGN Gene

Domains & Families for PIGN Gene

Gene Families for PIGN Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for PIGN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95427

UniProtKB/Swiss-Prot:

PIGN_HUMAN :
  • Belongs to the PIGG/PIGN/PIGO family. PIGN subfamily.
Family:
  • Belongs to the PIGG/PIGN/PIGO family. PIGN subfamily.
genes like me logo Genes that share domains with PIGN: view

Function for PIGN Gene

Molecular function for PIGN Gene

UniProtKB/Swiss-Prot Function:
Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome missegregation.

Enzyme Numbers (IUBMB) for PIGN Gene

Phenotypes From GWAS Catalog for PIGN Gene

Gene Ontology (GO) - Molecular Function for PIGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008484 sulfuric ester hydrolase activity IEA --
GO:0016740 transferase activity IEA --
GO:0051377 mannose-ethanolamine phosphotransferase activity TAS --
genes like me logo Genes that share ontologies with PIGN: view
genes like me logo Genes that share phenotypes with PIGN: view

Human Phenotype Ontology for PIGN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PIGN Gene

Localization for PIGN Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGN Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

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 PIGN gene
Compartment Confidence
plasma membrane 5
cytosol 5
endoplasmic reticulum 4
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PIGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with PIGN: view

Pathways & Interactions for PIGN Gene

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

UniProtKB/Swiss-Prot O95427-PIGN_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Gene Ontology (GO) - Biological Process for PIGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process IEA,IBA --
GO:0008152 metabolic process IEA --
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
genes like me logo Genes that share ontologies with PIGN: view

No data available for SIGNOR curated interactions for PIGN Gene

Drugs & Compounds for PIGN Gene

(3) Drugs for PIGN Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sphingosine Experimental Pharma 0
sphinganine Pharma 0
sphingosine 1-phosphate Pharma Full agonist, Agonist 0

(841) Additional Compounds for PIGN Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • (2S)-2-amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
  • 2-Amino-1-hydroxy-3-Octadecanone
  • 3-Dehydro-D-sphinganine
  • 3-Dehydrosphinganine
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
genes like me logo Genes that share compounds with PIGN: view

Transcripts for PIGN Gene

Unigene Clusters for PIGN Gene

Phosphatidylinositol glycan anchor biosynthesis, class N:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for PIGN Gene

GeneLoc Exon Structure for
PIGN
ECgene alternative splicing isoforms for
PIGN

Expression for PIGN Gene

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

Protein differential expression in normal tissues from HIPED for PIGN Gene

This gene is overexpressed in Placenta (24.4), Peripheral blood mononuclear cells (12.3), Monocytes (9.8), and Platelet (9.0).

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



Protein tissue co-expression partners for PIGN Gene

NURSA nuclear receptor signaling pathways regulating expression of PIGN Gene:

PIGN

SOURCE GeneReport for Unigene cluster for PIGN Gene:

Hs.157031

Evidence on tissue expression from TISSUES for PIGN Gene

  • Nervous system(2.4)
  • Kidney(2.2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • esophagus
  • heart
  • heart valve
Abdomen:
  • intestine
  • kidney
  • large intestine
  • stomach
Pelvis:
  • anus
  • placenta
  • rectum
  • testicle
  • ureter
  • uterus
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with PIGN: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PIGN Gene

Orthologs for PIGN Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIGN 33 34
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia PIGN 34 33
  • 88.94 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pign 33
  • 86.39 (n)
mouse
(Mus musculus)
Mammalia Pign 16 34 33
  • 86.32 (n)
cow
(Bos Taurus)
Mammalia PIGN 33 34
  • 83.82 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 83 (a)
OneToMany
-- 34
  • 74 (a)
OneToMany
-- 34
  • 74 (a)
OneToMany
-- 34
  • 65 (a)
OneToMany
-- 34
  • 57 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia PIGN 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGN 33 34
  • 73.67 (n)
lizard
(Anolis carolinensis)
Reptilia PIGN 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pign 33
  • 68.72 (n)
zebrafish
(Danio rerio)
Actinopterygii pign 33 34
  • 64.1 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003222 33
  • 46.43 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2292 33 34 35
  • 45.22 (n)
CG4907 35 34
  • 28 (a)
CG13978 34
  • 24 (a)
OneToMany
CG5342 34
  • 22 (a)
OneToMany
CG6790 34
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_Y54E10BR.1 33
  • 48.96 (n)
Y54E10BR.1 35 34
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MCD4 33 34 36
  • 50.17 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B07249g 33
  • 50.04 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL113C 33
  • 47.89 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G01380 33
  • 49.83 (n)
rice
(Oryza sativa)
Liliopsida Os02g0581000 33
  • 46.1 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes its8 33
  • 49.87 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07999 33
  • 48.43 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToOne
Species where no ortholog for PIGN was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PIGN Gene

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

Paralogs for PIGN Gene

No data available for Paralogs for PIGN Gene

Variants for PIGN Gene

Sequence variations from dbSNP and Humsavar for PIGN Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1060499763 likely-pathogenic, Abnormality of brain morphology 62,140,447(-) A/C coding_sequence_variant, missense_variant
rs138671843 benign, Multiple congenital anomalies-hypotonia-seizures syndrome 1 62,074,826(-) AAAAAAAAA/AAAAAAAA/AAAAAAAAAA intron_variant
rs144304758 benign, Multiple congenital anomalies-hypotonia-seizures syndrome 1 62,154,566(-) C/G/T coding_sequence_variant, synonymous_variant
rs147306123 benign, Multiple congenital anomalies-hypotonia-seizures syndrome 1 62,107,043(-) A/G coding_sequence_variant, synonymous_variant
rs17069511 benign, Multiple congenital anomalies-hypotonia-seizures syndrome 1 62,157,721(-) A/G coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
dgv1622n106 CNV deletion 24896259
esv2717189 CNV deletion 23290073
esv2717190 CNV deletion 23290073
esv2717191 CNV deletion 23290073
esv2717192 CNV deletion 23290073
esv2717193 CNV deletion 23290073
esv3307664 CNV mobile element insertion 20981092
esv3308328 CNV mobile element insertion 20981092
esv3372987 CNV insertion 20981092
esv33793 CNV loss 17666407
esv3442306 CNV insertion 20981092
esv3555496 CNV deletion 23714750
esv3555497 CNV deletion 23714750
esv3642743 CNV loss 21293372
esv5079 CNV loss 18987735
nsv130647 CNV deletion 16902084
nsv131648 CNV deletion 16902084
nsv474374 CNV novel sequence insertion 20440878
nsv577084 CNV loss 21841781
nsv577085 CNV loss 21841781
nsv833671 CNV gain+loss 17160897

Variation tolerance for PIGN Gene

Residual Variation Intolerance Score: 23.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.15; 61.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIGN Gene

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

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

Disorders for PIGN Gene

MalaCards: The human disease database

(6) MalaCards diseases for PIGN Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
multiple congenital anomalies-hypotonia-seizures syndrome 1
  • mcahs1
multiple congenital anomalies-hypotonia-seizures syndrome
  • congenital disorder of glycosylation due to pign deficiency
fryns syndrome
  • frns
hypotonia
acute proliferative glomerulonephritis
  • acute glomerulonephritis with lesion of proliferative glomerulonephritis
- elite association - COSMIC cancer census association via MalaCards
Search PIGN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PIGN_HUMAN
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) [MIM:614080]: An autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age. {ECO:0000269 PubMed:21493957}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PIGN

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 PIGN: view

No data available for Genatlas for PIGN Gene

Publications for PIGN Gene

  1. MCD4 encodes a conserved endoplasmic reticulum membrane protein essential for glycosylphosphatidylinositol anchor synthesis in yeast. (PMID: 10069808) Gaynor EC … Emr SD (Molecular biology of the cell 1999) 2 3 4 58
  2. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. (PMID: 21493957) Maydan G … Basel-Vanagaite L (Journal of medical genetics 2011) 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping. (PMID: 19690890) McDonough CW … Bowden DW (Human genetics 2009) 3 44 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for PIGN Gene

Sources for PIGN Gene

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