GGCX - gamma-glutamyl carboxylase Gene

Homo sapiens

Also known as VKCFD1

Gene ID: 2677 | Gene type: protein coding

About GGCX

Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:85,544,720-85,561,493 (from NCBI)

This gene has 25 transcripts (splice variants), 205 orthologues and is associated with 6 phenotypes. Ubiquitous expression in liver (RPKM 18.5), thyroid (RPKM 16.4) and 25 other tissues.

Summary

This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

GGCX Products(3)

mRNA	Protein	Name
NM_000821.7	NP_000812.2	vitamin K-dependent gamma-carboxylase isoform 1
NM_001142269.4	NP_001135741.1	vitamin K-dependent gamma-carboxylase isoform 2
NM_001311312.2	NP_001298241.1	vitamin K-dependent gamma-carboxylase isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables gamma-glutamyl carboxylase activity	IDA IDA: Inferred from direct assay	17073445	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in vitamin K metabolic process	IDA IDA: Inferred from direct assay	17073445	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	10910912	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GGCX Protein Structure

VKG_Carbox

0
200
400
600
758 a.a.

Protein Preferred Names

Protein Names

vitamin K-dependent gamma-carboxylase

peptidyl-glutamate 4-carboxylase

Related Diseases

Diseases

Alias

Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency

Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency	Pxe-Like Disorder With Multiple Coagulation Factor Deficiency
Pxe-Like Syndrome	Pseudoxanthoma Elasticum-Like Syndrome
PXEL-MCFD

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1

VKCFD1	Combined Deficiency Of Vitamin K-Dependent Clotting Factors 1
Vitamin K-Dependent Coagulation Defect	Multiple Coagulation Factor Deficiency Iii
Mcfd3	Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 1
Vkcfd	Familial Multiple Coagulation Factor Deficiency Iii
Fmfd Iii	Factors Ii, Vii, Ix, And X, Combined Deficiency Of
Glutamic Acid, Deficient Gamma-Carboxylation Of

Hereditary Combined Deficiency Of Vitamin K-Dependent Clotting Factors

Hereditary Combined Deficiency Of Factors Ii, Vii, Ix And X

Vkcfd

Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa

Pxe-Like Syndrome With Retinitis Pigmentosa

Pseudoxanthoma Elasticum

PXE	Gronblad-Strandberg Syndrome
Pseudoxanthoma Elasticum, Modifier Of Severity Of	Gronblad-Strandberg-Touraine Syndrome
Gronblad Strandberg Syndrome	Groenblad-Strandberg Syndrome
Nevus Elasticus	Pxe - [Pseudoxanthoma Elasticum]

Coumarin Resistance

Warfarin Resistance	Warfarin Sensitivity
Coumadin Sensitivity	Warfarin Response
Poor Metabolism Of Coumarin	Coumarin, Poor Metabolism Of
CMRES

Urolithiasis

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 2

VKCFD2	Combined Deficiency Of Vitamin K-Dependent Clotting Factors 2
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2

Hemophilia B

Christmas Disease	Factor Ix Deficiency
F9 Deficiency	HEMB
Plasma Thromboplastin Component Deficiency	Congenital Factor Ix Deficiency
Mild Hemophilia B	Severe Hemophilia B
Congenital Factor Ix Disorder	Deficiency, Functional Factor Ix
Hem B	Mild Congenital F9 Deficiency
Mild Congenital Factor Ix Deficiency	Moderate Hemophilia B
Moderate Congenital F9 Deficiency	Moderate Congenital Factor Ix Deficiency
Severe Congenital F9 Deficiency	Severe Congenital Factor Ix Deficiency
Bleeding Disorder In Hemophilia B Carriers	Congenital F9 Deficiency
Recessive X-Linked Hemophilia B

Angioid Streaks

Vitamin K Deficiency Bleeding

Vitamin K Deficiency	Deficiency Of Vitamin K
Vitamin K	Vitamin K Deficiency Hemorrhagic Disease

Cutis Laxa

Generalized Elastolysis	Loose Skin
Dermatolysis	Dermatomegaly
Cutis Laxa Syndrome

Calcification Of Joints And Arteries

Hereditary Arterial And Articular Multiple Calcification Syndrome	CALJA
Arterial Calcification Due To Cd73 Deficiency	Arterial Calcification Due To Deficiency Of Cd73
Acdc	Arterial Calcification And Distal Joint Calcification
Arterial Calcification Due To Deficiency Of Cd73:Acdc	Calcification Of Joints And Arteries
Calja

Deafness, Autosomal Recessive 88

DFNB88	Autosomal Recessive Nonsyndromic Deafness 88
Autosomal Recessive Deafness 88	Deafness, Autosomal Recessive, 88
Deafness, Autosomal Recessive, Type 88

Prothrombin Deficiency

Factor Ii Deficiency	Hypoprothrombinemia
Dysprothrombinemia	Deficiency, Prothrombin
Inherited Factor Ii Deficiency	Hereditary Factor Ii Deficiency Disease

Arterial Calcification Of Infancy

Idiopathic Infantile Arterial Calcification	Generalized Arterial Calcification Of Infancy
Iiac	Occlusive Infantile Arteriopathy
Infantile Arteriosclerosis	Gaci
Idiopathic Obliterative Arteriopathy	Generalized Arterial Calcification In Infancy
Arteriopathia Calcificans Infantum	Diffuse Arterial Calcifying Elastopathy Of Infancy
Infantile Calcifying Arteriopathy	Medial Coronary Sclerosis Of Infancy
Coronary Sclerosis, Medial, Of Infancy	Calcification, Arterial, Generalized, Infancy

Calciphylaxis

Idiopathic Calciphylaxis

Meckel Syndrome, Type 7

Meckel Syndrome 7	Nphp3-Related Meckel-Like Syndrome
MKS7	Goldston Syndrome
Meckel Syndrome Type 7	Meckel-Like Syndrome Type 1
Renal-Hepatic-Pancreatic Dysplasia-Dandy-Walker Cysts Syndrome	Renal Hepatic Pancreatic Dysplasia Dandy Walker Cyst
Renal-Hepatic-Pancreatic Dysplasia With Dandy-Walker Cyst	Meckel-Gruber Syndrome, Type 7
Dandy-Walker Cyst With Renal-Hepatic-Pancreatic Dysplasia

Cutis Laxa, Autosomal Dominant 1

Cutis Laxa, Autosomal Dominant	Autosomal Dominant Cutis Laxa
ADCL1	Adcl
Autosomal Dominant Cutis Laxa 1	Cutis Laxa, Autosomal Dominant, 1
Cutis Laxa, Autosomal Dominant, Type 1

Osteoporosis

Postmenopausal Osteoporosis	Osteoporosis, Postmenopausal
Bone Mineral Density Quantitative Trait Locus	Bmnd
Osteoporosis, Involutional	Osteoporosis, Susceptibility To
Osteoporosis, Postmenopausal, Susceptibility	Bone Mineral Density Variation Qtl, Osteoporosis
OSTEOP	Involutional Osteoporosis
Senile Osteoporosis	Osteoporosis Postmenopausal
Bone Mineral Density, Quantitative Trait Locus	Osteoporosis, Senile
Idiopathic Osteoporosis	Bone Rarefaction Nos
Type 1 Osteoporosis

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05398	GGCX Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GGCX	RGD	RGD:68383
Felis catus	GGCX	VGNC	VGNC:62536
Bos taurus	GGCX	VGNC	VGNC:29339
Mus musculus	GGCX	MGD	MGI:1927655
Macaca mulatta	GGCX	VGNC	VGNC:72920
Canis familiaris	GGCX	VGNC	VGNC:41197
Others	GGCX	NCBI

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