GGCX Gene
protein-coding GIFtS: 62
GCID: GC02M085774
|
|
gamma-glutamyl carboxylase
| |
Aliases for GGCX gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Gamma-Glutamyl Carboxylase1 2 3 | | EC 4.1.1.903 | | VKCFD11 2 | | GC3 | | Peptidyl-Glutamate 4-Carboxylase2 3 | | Vitamin K Gamma Glutamyl Carboxylase3 | | Vitamin K-Dependent Gamma-Carboxylase2 | | |
Export aliases for GGCX gene to outside databasesPrevious GC identifers: GC02M085671 GC02M086070 GC02M085733 GC02M085750 GC02M085687 GC02M085629 GC02M085673 |
Summaries for GGCX gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for GGCX: This gene encodes an enzyme which catalyzes the posttranslational modification of vitamin K-dependent protein. Many ofthese vitamin K-dependent proteins are involved in coagulation so the function of the encoded enzyme is essential forhemostasis. Mutations in this gene are associated with vitamin K-dependent coagulation defect and PXE-like disorderwith multiple coagulation factor deficiency. Multiple transcript variants encoding different isoforms have been foundfor this gene.(provided by RefSeq, Nov 2008) UniProtKB/Swiss-Prot: VKGC_HUMAN, P38435Function: Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-bindinggamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin K tovitamin K epoxide Gene Wiki entry for GGCX (Gamma-glutamyl carboxylase)
|
Genomic Views for GGCX gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_022184.15
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the GGCX gene promoter: E2F-4 E2F-3a E2F-5 Pbx1a Olf-1 Nkx2-5 E2F-2 E2F E2F-1 ZIC2/Zic2 Other transcription factors
Search SABiosciences Chromatin IP Primers for GGCX
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GGCX |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2p12 Ensembl cytogenetic band: 2p11.2 HGNC cytogenetic band: 2p12GGCX Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M085774: view genomic region
(about GC identifiers)
Start:
|
85,774,743 bp from pter |
End:
|
85,788,670 bp from pter |
Size:
|
13,928 bases |
Orientation:
|
minus strand |
|
Proteins for GGCX gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: VKGC_HUMAN, P38435 (See
protein sequence)Recommended Name: Vitamin K-dependent gamma-carboxylase Size: 758 amino acids; 87561 Da
Subunit: Monomer. May interact with CALU (By similarity)
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Miscellaneous: The vitamin K-dependent protein substrates of carboxylase have usually a propeptide that binds to ahigh-affinity site on the carboxylase. CO(2), O(2) and reduced vitamin K are cosubstrates
Secondary accessions: B4DMC5 E9PEE1 Q14415 Q6GU45Alternative splicing: 2 isoforms: P38435-1 P38435-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for GGCX: NX_P38435
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P38435 GGCX Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_000812.2 NP_001135741.1 ENSEMBL proteins: ENSP00000233838 ENSP00000408045 ENSP00000389426 ENSP00000400384 ENSP00000390748 Reactome Protein details: P38435 Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
GGCX for ontologies About GeneDecksing
GGCX Antibody Products: Assay Products for GGCX: |
Protein
Domains / Families for GGCX gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
GGCX for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P38435ProtoNet protein and cluster: P38435 2 Blocks protein families: IPB007782 Vitamin K-dependent gamma-carboxylase IPB011020 HTTM
UniProtKB/Swiss-Prot: VKGC_HUMAN, P38435Similarity: Belongs to the vitamin K-dependent gamma-carboxylase family |
Function for GGCX gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: VKGC_HUMAN, P38435Function: Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-bindinggamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin K tovitamin K epoxideCatalytic activity: [Peptidyl]-4-carboxyglutamate + 2,3-epoxyphylloquinone + H(2)O = [peptidyl]-glutamate + CO(2) +O(2) + phylloquinoneBiophysicochemical properties: pH dependence: Optimum pH is 7; Genatlas biochemistry entry for GGCX:gamma-glutamyl carboxylase,activating vitamin K-dependent proteins,widely expressed Enzyme Number (IUBMB): EC 4.1.1.901
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GGCX (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GGCX (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): GGCX (NM_000821) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GGCX | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GGCX  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GGCX |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008488 | gamma-glutamyl carboxylase activity |
IEA | -- |
GGCX for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for GGCX: Animal Models: Mouse knock-out Ggcxtm1Dgi for GGCX 4 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Ggcx):
GGCX for phenotypes About GeneDecksing
|
Pathways & Interactions for GGCX gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Gamma-carboxylation, transport, and amino-terminal cleavage of proteins | | | 2 | Asparagine N-linked glycosylation | | | 3 | PTM: gamma carboxylation, hypusine formation and arylsulfatase activation | |
Pathway sources See GeneCards unified pathways Show all pathways
5
Reactome Pathways for GGCX 1 PharmGKB Pathway for GGCX
GGCX for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GGCX
STRING Interaction
Network Preview (showing 5 interactants - click image to see 9)
 5/11 Interacting proteins for GGCX (P384353 ENSP000002338384) via UniProtKB, MINT, STRING, and/or I2D (see all 11)About this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table
GGCX for ontologies About GeneDecksing
|
Drugs & Compounds for GGCX gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
GGCX for compounds About GeneDecksing
Browse Tocris compounds for GGCX
5 HMDB Compounds for GGCX About this table
7 DrugBank Compounds for GGCX About this table
10/13 Novoseek chemical compound relationships for GGCX gene (see all 13) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| vitamin k epoxide |
95.8 |
24 |
17049586 (2), 15287948 (1), 19942260 (1), 19598072 (1) (see all 14) |
| vitamin k hydroquinone |
93 |
1 |
18374191 (1) |
| gamma-carboxyglutamic acid |
92.3 |
8 |
11818531 (1), 12963724 (1), 9256436 (1), 11570873 (1) (see all 8) |
| warfarin |
72.1 |
46 |
16676068 (3), 17049586 (3), 17764537 (2), 19582440 (2) (see all 12) |
| vitamin k2 |
69.1 |
5 |
11580082 (1), 17189218 (1), 17909264 (1) |
| glutamate |
52.5 |
13 |
12963724 (1), 18374191 (1), 19448531 (1), 9256436 (1) (see all 12) |
| epoxide |
46.5 |
3 |
16493479 (1), 15900282 (1) |
| calcium oxalate |
42.6 |
8 |
19821094 (3), 12875724 (2) |
| cyanogen bromide |
39.1 |
1 |
9115224 (1) |
| cysteine |
10.3 |
1 |
10413529 (1) |
1 PharmGKB related drug/compound annotation for GGCX gene
| Drug/compound |
PharmGKB Annotation | | warfarin | CA   | About this table
Search CenterWatch for drugs/clinical trials and news about GGCX / VKGC 
|
Transcripts for GGCX gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for GGCX gene (2 alternative transcripts): NM_000821.5 NM_001142269.2 Unigene Cluster for GGCX: Gamma-glutamyl carboxylase Hs.77719 [show with all ESTs]Unigene Representative Sequence: NM_00082110 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000465637 ENST00000233838(uc010yss.2 uc002sps.3 uc010yst.2) ENST00000430215 ENST00000473665 ENST00000482662 ENST00000423570 ENST00000421496 ENST00000428479 ENST00000481541 ENST00000496962
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GGCX (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GGCX (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): GGCX (NM_000821) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GGCX | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GGCX  |
Additional cDNA sequence: AK054569.1 AK130139.1 AK222827.1 AK225663.1 AK297397.1 AK298982.1 AK310483.1 AK313126.1 BC004422.1 BC013979.2 EU847509.1 L17128.1 M81592.1 24/30 DOTS entries (see all 30): DT.95161822 DT.95161823 DT.101960082 DT.40295726 DT.99952533 DT.86853340 DT.95123247 DT.75171568 DT.121022921 DT.100878478 DT.121022995 DT.86853339 DT.95375821 DT.121022890 DT.97862448 DT.100646484 DT.91689716 DT.121022946 DT.75123054 DT.92043845 DT.95096121 DT.95161821 DT.95355911 DT.97861858 24/143 AceView cDNA sequences (see all 143): AI968453 BM808591 AI565796 AI123873 BF223288 BM693901 AW517132 BE741282 BM773500 AW152305 BQ919220 CA429638 AI654844 CA427238 CR607119 CF130291 BQ940402 AI086133 BE898541 BU682134 BM848085 BM704752 BM763478 BM558283 GeneLoc Exon Structure
5/12 Alternative Splicing Database (ASD) splice patterns (SP) for GGCX (see all 12) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c | ^ | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | - |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   |
| ExUns: | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | |
| SP1: | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for GGCX
|
Expression for GGCX gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| GGCX expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TTTTCTTAAT
About this image See GGCX Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for GGCX
SOURCE GeneReport for Unigene cluster: Hs.77719 SABiosciences Custom PCR Arrays for GGCX
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GGCX Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GGCX | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GGCX | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GGCX | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GGCX |
Orthologs for GGCX gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for GGCX gene from 5/18 species (see all 18) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
mouse (Mus musculus) |
Mammalia |
Ggcx1 , 5 |
gamma-glutamyl carboxylase1, 5 |
87.1(n)1 89.56(a)1 |
  |
6 (32.27 cM)5 563161 NM_019802.41 NP_062776.11 724143085 |
lizard (Anolis carolinensis) |
Reptilia |
GGCX6 |
-- |
75(a) |
1 ↔ 1 |
GL343608.1(190913-203020) |
tropical clawed frog (Xenopus tropicalis) |
Amphibia |
Str.101392 |
Transcribed sequence with moderate similarity to protein more |
76.83(n) |
  |
AL893507.2 |
zebrafish (Danio rerio) |
Actinopterygii |
LOC1005376041 |
vitamin K-dependent gamma-carboxylase-like |
64.35(n) 67.82(a) |
  |
100537604 XM_003199294.1 XP_003199342.1 |
fruit fly (Drosophila melanogaster) |
Insecta |
GC1 , 3 |
gamma-glutamyl carboxylase1, 3 |
42(a)3 53.73(n)1 46.08(a)1 |
  |
62A93 381941 NM_079161.31 NP_523885.21 |
ENSEMBL Gene Tree for GGCX (if available) TreeFam Gene Tree for GGCX (if available)  |
Paralogs for GGCX gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for GGCX gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 2 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for GGCX (85774743 - 85788670 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for GGCX 1 CNV: 35863 Human Gene Mutation Database (HGMD): GGCX
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GGCX |
|
Disorders
/ Diseases for GGCX gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
GGCX for disorders About GeneDecksing
OMIM gene information: 137167 OMIM disorders: 277450 610842 UniProtKB/Swiss-Prot: VKGC_HUMAN, P38435
Defects in GGCX are a cause of combined deficiency of vitamin K-dependent clotting factors type 1 (VKCFD1)[MIM:277450]; also known as multiple coagulation factor deficiency III (MCFD3). VKCFD leads to a bleeding tendencythat is usually reversed by oral administration of vitamin K Defects in GGCX are the cause of pseudoxanthoma elasticum-like disorder with multiple coagulation factordeficiency (PXEL-MCFD) [MIM:610842]. This syndrome is characterized by hyperlaxity of the skin involving the entirebody. Important phenotypic differences with classical PXE include much more severe skin laxity with spreading towardthe trunk and limbs with thick, leathery skin folds rather than confinement to flexural areas, and no decrease invisual acuity. Moreover, detailed electron microscopic analyzes revealed that alterations of elastic fibers as well astheir mineralization are slightly different from those in classic PXE 15 diseases for GGCX: About MalaCardsvitamin k-dependent coagulation defect pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency vitamin k-dependent clotting factors vitamin k deficiency hemorrhagic disease angioid streaks deep vein thrombosis cutis laxa urolithiasis herpes simplex hemorrhagic disease nephrolithiasis thrombosis keratitis hepatocellular carcinoma carcinoma 3 diseases from the University of Copenhagen DISEASES database for GGCX:Pseudoxanthoma elasticum Cutis laxa Angioid streaks 4 Novoseek disease relationships for GGCX gene About this table
Genatlas disease: GGCX combined deficiency of all vitamin K-dependent blood coagulation factors Genetic Association Database (GAD): GGCX Human Genome Epidemiology (HuGE) Navigator: GGCX (34 documents) Export disorders for GGCX gene to outside databases
|
Publications for GGCX gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for GGCX gene, integrated from 9 sources (see all 152): (articles sorted by number of sources associating them with GGCX) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Cloning and expression of the cDNA for human gamma-glutamyl carboxylase. (PubMed id 1749935)1, 2, 3, 9 Wu S.-M.... Stafford D.W. (1991)
- A topological study of the human gamma-glutamyl carboxylase. (PubMed id 10910912)1, 2, 9 Tie J.... Stafford D.W. (2000)
- Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors. (PubMed id 15287948)1, 2, 9 Rost S.... Oldenburg J. (2004)
- Binding of the factor IX gamma-carboxyglutamic acid domain to the vitamin K-dependent gamma-glutamyl carboxylase active site induces an allosteric effect that may ensure processive carboxylation and regulate the release of carboxylated product. (PubMed id 14660587)1, 7, 9 Lin P.J....Stafford D.W. (2004)
- Determination of disulfide bond assignment of human vitamin K- dependent gamma-glutamyl carboxylase by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. (PubMed id 12963724)1, 2, 9 Tie J.K....Stafford D.W. (2003)
- A novel fluorescence assay to study propeptide interaction with gamma-glutamyl carboxylase. (PubMed id 11570873)1, 2, 9 Presnell S.R.... Stafford D.W. (2001)
- Expression and characterization of the naturally occurring mutation L394R in human gamma-glutamyl carboxylase. (PubMed id 10934213)1, 2, 9 Mutucumarana V.P.... Wu S.-M. (2000)
- Genomic sequence and transcription start site for the human gamma- glutamyl carboxylase. (PubMed id 9166845)1, 2, 9 Wu S.-M.... Solera J. (1997)
- Common genetic variants of microsomal epoxide hydrolase affect warfarin dose requirements beyond the effect of cytochrome P450 2C9. (PubMed id 15900282)1, 4, 9 Loebstein R....Almog S. (2005)
- Common VKORC1 and GGCX polymorphisms associated with warfarin dose. (PubMed id 15883587)1, 4, 9 Wadelius M....Deloukas P. (2005)
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External Searches for GGCX gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing GGCX gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing GGCX gene
(According to HUGE)
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Specialized Databases showing GGCX gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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| Name | Description |
| PharmGKB entry for GGCX | Pharmacogenomics, SNPs, Pathways |
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About This Section
| Patent Information for GGCX gene: Search GeneIP for patents involving GGCX
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for GGCX gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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| | | | OriGene Antibodies for GGCX | | OriGene shRNA RFP for GGCX | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GGCX | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GGCX | | OriGene Protein Over-expression Lysate for GGCX | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for GGCX | | OriGene 3'-UTR Clone for GGCX | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GGCX | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GGCX | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for GGCX | | OriGene Custom Protein Services for GGCX | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat GGCX | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GGCX | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GGCX | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GGCX | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GGCX | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GGCX |
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 | | GGCX Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GGCX |
|  |  |  | | | ThermoFisher Antibodies for GGCX |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GGCX |
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