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Aliases for GPHN Gene

Aliases for GPHN Gene

  • Gephyrin 2 3 3 5
  • GPH 3 4
  • KIAA1385 4
  • GPHRYN 3
  • MOCODC 3
  • HKPX1 3
  • GEPH 3

External Ids for GPHN Gene

Previous GeneCards Identifiers for GPHN Gene

  • GC14P064480
  • GC14P060767
  • GC14P064964
  • GC14P066043
  • GC14P066974
  • GC14P047144

Summaries for GPHN Gene

Entrez Gene Summary for GPHN Gene

  • This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]

GeneCards Summary for GPHN Gene

GPHN (Gephyrin) is a Protein Coding gene. Diseases associated with GPHN include Molybdenum Cofactor Deficiency C and Hyperekplexia, Hereditary 1, Autosomal Dominant Or Recessive. Among its related pathways are Metabolism and Circadian entrainment. GO annotations related to this gene include transferase activity and molybdopterin molybdotransferase activity.

UniProtKB/Swiss-Prot for GPHN Gene

  • Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules. Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.

Gene Wiki entry for GPHN Gene

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

Genomics for GPHN Gene

Regulatory Elements for GPHN Gene

Enhancers for GPHN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F066483 0.6 ENCODE 12.2 -23.9 -23850 0.2 NFIA ATF3 HLF CEBPB ZBTB33 RAD21 NR2F2 YY1 ATP6V1D GPHN LINC00238 GC14P066230
GH14F067356 1.1 ENCODE 5.9 +851.8 851812 5.4 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ATP6V1D PLEK2 ENSG00000258561 GPHN EIF2S1 ENSG00000199755
GH14F066931 1 Ensembl ENCODE 6 +425.2 425165 1.8 CTCF ZNF792 ZNF384 FEZF1 ZNF644 RAD21 YY1 GATA3 CTBP1 FOSL2 ATP6V1D GPHN GC14M066915 ENSG00000258490
GH14F067251 1 Ensembl ENCODE 5.9 +746.0 746024 4.1 PKNOX1 CEBPG ZNF316 SCRT2 NR2F6 NFE2 MAFK THAP11 SCRT1 ZNF263 ATP6V1D GPHN ENSG00000258561 GC14P067260 MPP5
GH14F067426 1 Ensembl ENCODE 5.8 +919.9 919902 1.1 CTCF ZNF654 WRNIP1 ARID4B TRIM22 REST ZNF2 RAD21 ZFHX2 SMARCA4 PLEKHH1 ATP6V1D GPHN MIR5694 PLEK2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GPHN on UCSC Golden Path with GeneCards custom track

Promoters for GPHN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000419587 1093 3400 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143

Genomic Location for GPHN Gene

Chromosome:
14
Start:
66,507,407 bp from pter
End:
67,181,808 bp from pter
Size:
674,402 bases
Orientation:
Plus strand

Genomic View for GPHN Gene

Genes around GPHN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GPHN Gene

Proteins for GPHN Gene

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

    Protein Symbol:
    Q9NQX3-GEPH_HUMAN
    Recommended name:
    Gephyrin
    Protein Accession:
    Q9NQX3
    Secondary Accessions:
    • Q96KU4
    • Q9H4E9
    • Q9P2G2

    Protein attributes for GPHN Gene

    Size:
    736 amino acids
    Molecular mass:
    79748 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homotrimer, homodimer and homooligomer (PubMed:26613940). Interacts with GABARAP (By similarity). Interacts with SRGAP2 (via SH3 domain) (By similarity). Interacts with GABRA3 (PubMed:26613940). Interacts with GLRB (PubMed:26613940, PubMed:12684523). GABRA3 and GLRB occupy overlapping binding sites (By similarity).
    SequenceCaution:
    • Sequence=BAA92623.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GPHN Gene

    Alternative splice isoforms for GPHN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GPHN Gene

Post-translational modifications for GPHN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GPHN (gephyrin)

No data available for DME Specific Peptides for GPHN Gene

Domains & Families for GPHN Gene

Suggested Antigen Peptide Sequences for GPHN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NQX3

UniProtKB/Swiss-Prot:

GEPH_HUMAN :
  • In the N-terminal section; belongs to the MoaB/Mog family.
Family:
  • In the N-terminal section; belongs to the MoaB/Mog family.
  • In the C-terminal section; belongs to the MoeA family.
genes like me logo Genes that share domains with GPHN: view

No data available for Gene Families for GPHN Gene

Function for GPHN Gene

Molecular function for GPHN Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + molybdopterin = diphosphate + adenylyl-molybdopterin.
UniProtKB/Swiss-Prot CatalyticActivity:
Adenylyl-molybdopterin + molybdate = molybdenum cofactor + AMP.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by copper and tungsten.
UniProtKB/Swiss-Prot Function:
Microtubule-associated protein involved in membrane protein-cytoskeleton interactions. It is thought to anchor the inhibitory glycine receptor (GLYR) to subsynaptic microtubules. Catalyzes two steps in the biosynthesis of the molybdenum cofactor. In the first step, molybdopterin is adenylated. Subsequently, molybdate is inserted into adenylated molybdopterin and AMP is released.

Gene Ontology (GO) - Molecular Function for GPHN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 21094642
GO:0005524 ATP binding IEA --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GPHN: view
genes like me logo Genes that share phenotypes with GPHN: view

Human Phenotype Ontology for GPHN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GPHN Gene

MGI Knock Outs for GPHN:

Animal Model Products

miRNA for GPHN Gene

miRTarBase miRNAs that target GPHN

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GPHN Gene

Localization for GPHN Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPHN Gene

Cell junction, synapse. Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, dendrite. Note=Cytoplasmic face of glycinergic postsynaptic membranes. {ECO:0000250 UniProtKB:Q03555}.

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 GPHN gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for GPHN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GPHN: view

Pathways & Interactions for GPHN Gene

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

Pathways by source for GPHN Gene

1 Cell Signaling Technology pathway for GPHN Gene
1 BioSystems pathway for GPHN Gene

UniProtKB/Swiss-Prot Q9NQX3-GEPH_HUMAN

  • Pathway: Cofactor biosynthesis; molybdopterin biosynthesis.

SIGNOR curated interactions for GPHN Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for GPHN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006777 Mo-molybdopterin cofactor biosynthetic process IEA,IBA --
GO:0008152 metabolic process IEA --
GO:0018315 molybdenum incorporation into molybdenum-molybdopterin complex IBA --
GO:0032324 molybdopterin cofactor biosynthetic process IEA,TAS --
GO:0072579 glycine receptor clustering IBA --
genes like me logo Genes that share ontologies with GPHN: view

Drugs & Compounds for GPHN Gene

(12) Drugs for GPHN Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma 172
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
propanoic acid Experimental Pharma Full agonist, Agonist, Target 0
Formic acid Experimental Pharma Target 0

(9) Additional Compounds for GPHN Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
molybdopterin
  • MoCo
  • Molybdenum cofactor
  • Molybdenum enzyme molybdenum cofactor
  • Molybdoenzyme molybdenum-containing cofactor
  • Nitrate reductase molybdenum cofactor
73508-07-3
Adenylyl-molybdopterin
molybdate
  • Molybdate ion
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
Tungsten
  • Tungsten ion
  • Tunsten
  • Wolfram
  • Wolframium
7440-33-7
genes like me logo Genes that share compounds with GPHN: view

Transcripts for GPHN Gene

Unigene Clusters for GPHN Gene

Gephyrin:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^
SP1: - - -
SP2: - - - -
SP3: -
SP4:

ExUns: 23 ^ 24
SP1:
SP2:
SP3:
SP4:

Relevant External Links for GPHN Gene

GeneLoc Exon Structure for
GPHN
ECgene alternative splicing isoforms for
GPHN

Expression for GPHN Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GPHN Gene

This gene is overexpressed in Brain (11.1), Fetal Brain (9.2), and Frontal cortex (7.0).

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



Protein tissue co-expression partners for GPHN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GPHN Gene:

GPHN

SOURCE GeneReport for Unigene cluster for GPHN Gene:

Hs.208765
genes like me logo Genes that share expression patterns with GPHN: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GPHN Gene

Orthologs for GPHN Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GPHN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPHN 34 35
  • 99.82 (n)
oppossum
(Monodelphis domestica)
Mammalia GPHN 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GPHN 34 35
  • 96.32 (n)
cow
(Bos Taurus)
Mammalia GPHN 34 35
  • 95.88 (n)
rat
(Rattus norvegicus)
Mammalia Gphn 34
  • 94.47 (n)
mouse
(Mus musculus)
Mammalia Gphn 34 16 35
  • 94.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GPHN 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPHN 34 35
  • 88.18 (n)
lizard
(Anolis carolinensis)
Reptilia GPHN 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gphn 34
  • 76.88 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29239 34
zebrafish
(Danio rerio)
Actinopterygii gphnb 34 35
  • 76.4 (n)
wufj59a01 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12530 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002800 34
  • 48.65 (n)
fruit fly
(Drosophila melanogaster)
Insecta cin 36 34 35
  • 48.2 (n)
worm
(Caenorhabditis elegans)
Secernentea moc-2 36 35
  • 44 (a)
moc-1 35
  • 37 (a)
OneToMany
lin-46 35
  • 30 (a)
OneToMany
barley
(Hordeum vulgare)
Liliopsida Hv.12358 34
bread mold
(Neurospora crassa)
Ascomycetes NCU09746 34
  • 50.32 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
OneToMany
-- 35
  • 37 (a)
OneToMany
Species where no ortholog for GPHN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GPHN Gene

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

Paralogs for GPHN Gene

Pseudogenes.org Pseudogenes for GPHN Gene

genes like me logo Genes that share paralogs with GPHN: view

No data available for Paralogs for GPHN Gene

Variants for GPHN Gene

Sequence variations from dbSNP and Humsavar for GPHN Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs397518420 Molybdenum cofactor deficiency, complementation group C (MOCODC) [MIM:615501], Pathogenic 67,159,416(+) GCAGG(A/C)CTATC intron-variant, reference, missense
VAR_075626 Molybdenum cofactor deficiency, complementation group C (MOCODC) [MIM:615501]
rs104894470 Pathogenic 67,727,097(+) ACCTC(C/T)AGAGC intron-variant, reference, stop-gained
rs104894471 Pathogenic 67,724,588(+) CTAGC(C/T)GAGGT intron-variant, reference, stop-gained
rs104894472 Pathogenic 67,727,055(+) TGTCC(C/T)CGGTG intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1927n100 CNV loss 25217958
dgv1928n100 CNV loss 25217958
dgv3734n54 CNV loss 21841781
dgv3735n54 CNV loss 21841781
dgv643e212 CNV loss 25503493
dgv644e212 CNV loss 25503493
dgv645e212 CNV loss 25503493
dgv646e212 CNV loss 25503493
esv1426305 CNV insertion 17803354
esv2517679 CNV deletion 19546169
esv2657966 CNV deletion 23128226
esv2670854 CNV deletion 23128226
esv2671185 CNV deletion 23128226
esv2671863 CNV deletion 23128226
esv2748779 CNV deletion 23290073
esv2748803 CNV deletion 23290073
esv2751285 CNV gain 17911159
esv2761840 CNV loss 21179565
esv2761841 CNV loss 21179565
esv2763071 CNV loss 21179565
esv3305553 CNV mobile element insertion 20981092
esv3328668 CNV insertion 20981092
esv3581234 CNV loss 25503493
esv3581248 CNV loss 25503493
esv3581251 CNV loss 25503493
esv3581252 CNV loss 25503493
esv3581253 CNV loss 25503493
esv3581254 CNV loss 25503493
esv3634788 CNV loss 21293372
esv3634789 CNV loss 21293372
esv3634790 CNV loss 21293372
esv3634794 CNV loss 21293372
esv3634795 CNV gain 21293372
esv3634799 CNV loss 21293372
esv3634800 CNV loss 21293372
esv7064 OTHER inversion 19470904
esv997182 CNV deletion 20482838
esv998272 CNV insertion 20482838
nsv1038122 CNV loss 25217958
nsv1051980 CNV loss 25217958
nsv1052677 CNV loss 25217958
nsv1315 CNV insertion 18451855
nsv1316 CNV insertion 18451855
nsv1317 CNV insertion 18451855
nsv510640 CNV deletion 20534489
nsv510641 CNV deletion 20534489
nsv524441 CNV loss 19592680
nsv525460 CNV loss 19592680
nsv528657 CNV loss 19592680
nsv564953 CNV gain 21841781
nsv564954 CNV loss 21841781
nsv564957 CNV loss 21841781
nsv564960 CNV loss 21841781
nsv832821 CNV gain 17160897
nsv85250 CNV insertion 16902084
nsv85719 CNV insertion 16902084
nsv976348 CNV duplication 23825009
nsv977478 CNV duplication 23825009
nsv977479 CNV duplication 23825009

Variation tolerance for GPHN Gene

Residual Variation Intolerance Score: 7.36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.87; 18.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GPHN Gene

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

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

Disorders for GPHN Gene

MalaCards: The human disease database

(9) MalaCards diseases for GPHN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
molybdenum cofactor deficiency c
  • molybdenum cofactor deficiency, complementation group c
hyperekplexia, hereditary 1, autosomal dominant or recessive
  • hyperekplexia
gphn-related hyperekplexia
molybdenum cofactor deficiency
  • combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase
stiff-person syndrome
  • stiff man syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GPHN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GEPH_HUMAN
  • Molybdenum cofactor deficiency, complementation group C (MOCODC) [MIM:615501]: A form of molybdenum cofactor deficiency, an autosomal recessive metabolic disorder leading to the pleiotropic loss of molybdoenzyme activities. It is clinically characterized by onset in infancy of poor feeding, intractable seizures, severe psychomotor retardation, and death in early childhood in most patients. {ECO:0000269 PubMed:11095995, ECO:0000269 PubMed:22040219, ECO:0000269 PubMed:26613940}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GPHN

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

No data available for Genatlas for GPHN Gene

Publications for GPHN Gene

  1. Gephyrin: where do we stand, where do we go? (PMID: 18403029) Fritschy J.M. … Schwarz G. (Trends Neurosci. 2008) 2 3 22 64
  2. Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia. (PMID: 12684523) Rees M.I. … Snell R.G. (J. Biol. Chem. 2003) 3 4 22 64
  3. A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency. (PMID: 11095995) Reiss J. … Schwarz G. (Am. J. Hum. Genet. 2001) 3 4 22 64
  4. The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells. (PMID: 11418245) David-Watine B. (Gene 2001) 3 4 22 64
  5. Crystal structures of human gephyrin and plant Cnx1 G domains: comparative analysis and functional implications. (PMID: 11554796) Schwarz G. … Schindelin H. (J. Mol. Biol. 2001) 3 4 22 64

Products for GPHN Gene

Sources for GPHN Gene

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