MVK - mevalonate kinase Gene

Homo sapiens

Also known as MK; LRBP; MVLK; POROK3

Gene ID: 4598 | Gene type: protein coding

About MVK

Cytogenetic location: 12q24.11 Genomic coordinates (GRCh38): 12:109,573,272-109,598,125 (from NCBI)

This gene has 17 transcripts (splice variants), 204 orthologues, 2 paralogues and is associated with 10 phenotypes. Ubiquitous expression in testis (RPKM 9.3), liver (RPKM 7.8) and 25 other tissues.

Summary

This gene encodes the peroxisomal Enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early Enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

MVK Products(8)

mRNA	Protein	Name
NM_000431.4	NP_000422.1	mevalonate kinase isoform a
NM_001114185.3	NP_001107657.1	mevalonate kinase isoform a
NM_001301182.2	NP_001288111.1	mevalonate kinase isoform b
NM_001414511.1	NP_001401440.1	mevalonate kinase isoform a
NM_001414512.1	NP_001401441.1	mevalonate kinase isoform c
NM_001414513.1	NP_001401442.1	mevalonate kinase isoform d
NM_001414514.1	NP_001401443.1	mevalonate kinase isoform e
NM_001414515.1	NP_001401444.1	mevalonate kinase isoform f

MVK Protein Structure

GHMP_kinases_N

GHMP_kinases_C

0
100
200
300
396 a.a.

Protein Preferred Names

Protein Names

mevalonate kinase

LH receptor mRNA-binding protein

Recombinant MVK Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74739	MVK Protein, Human (sf9, His-GST)	Q03426 (M1-L396)	≥95%

Related Diseases

Diseases

Alias

Mevalonic Aciduria

Mevalonate Kinase Deficiency	Mevalonicaciduria
Hyperimmunoglobulin D With Periodic Fever	MEVA
Complete Mevalonate Kinase Deficiency	Mva
Hyperimmunoglobulinemia D	Hyper Igd Syndrome
Periodic Fever, Dutch Type	Mkd
Aciduria, Mevalonic	Deficiency Of Mevalonate Kinase

Hyper-Igd Syndrome

HIDS	Hyperimmunoglobulinemia D And Periodic Fever Syndrome
Hyperimmunoglobinemia D With Recurrent Fever	Periodic Fever, Dutch Type
Hyper Igd Syndrome	Periodic Fever Dutch Type
Hyperimmunoglobulinemia D With Periodic Fever	Hyperimmunoglobulinemia D Syndrome
Partial Mevalonate Kinase Deficiency	Hyperimmunoglobulinemia D
Deficiency Of Mevalonate Kinase

Porokeratosis 3, Multiple Types

Porokeratosis, Disseminated Superficial Actinic, 1	Dsap1
Porokeratosis 3, Disseminated Superficial Actinic Type	POROK3
Porokeratosis, Disseminated Superficial Actinic 1	Disseminated Superficial Actinic Porokeratosis 1
Porokeratosis, Type 3, Multiple Types

Methylmalonic Aciduria, Cblb Type

Methylmalonic Aciduria Cblb Type	Methylmalonic Acidemia Cblb Type
Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Complementation Type	Methylmalonic Acidemia, Cblb Type
Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Type	Methylmalonic Aciduria, Vitamin B12-Responsive, Cblb Type
Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb	Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb
Methylmalonic Aciduria Type Cblb	MMAB
Methylmalonic Aciduria Type B	Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl B
Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl B	Aciduria, Methylmalonic, Cblb Type
Methylmalonic Acidemia	Methylmalonic Aciduria

Porokeratosis

Disseminated Superficial Actinic Porokeratosis	Dsap
Porokeratosis Of Mibelli	Porokeratosis, Disseminated Superficial Actinic
Porokeratosis, Disseminated Superficial Actinic, 1

Porokeratosis 1, Multiple Types

Porokeratosis Of Mibelli	POROK1
Porokeratosis 1, Mibelli Type

Autoinflammatory Syndrome

Periodic Fever, Familial, Autosomal Dominant

Familial Hibernian Fever	Tumor Necrosis Factor Receptor-Associated Periodic Syndrome
Traps	FPF
Tnf Receptor-Associated Periodic Fever Syndrome	Hibernian Fever, Familial
Fhf	Tnf Receptor-Associated Periodic Syndrome
Autosomal Dominant Familial Periodic Fever	Periodic Fever, Familial
Tnf Receptor 1-Associated Periodic Syndrome	Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Familial Periodic Fever	Traps Syndrome
Tnf Receptor Associated Periodic Syndrome	Caledonian Fever
Fever, Periodic, Familial	Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome

Relapsing Fever

Febris Recurrens	Novy Febris Recurrens
Novy Relapsing Fever

Rhizomelic Chondrodysplasia Punctata

Chondrodysplasia Punctata, Rhizomelic	Rcdp
Chondrodysplasia Punctata, Rhizomelic Form	Rcp
Chondrodysplasia Punctata Rhizomelic

Cinca Syndrome

CINCA	Nomid
Cryopyrin-Associated Periodic Syndrome 3	Chronic Neurologic Cutaneous And Articular Syndrome
Multisystem Inflammatory Disease, Neonatal-Onset	Caps3
Chronic Infantile Neurological Cutaneous Articular Syndrome	Infantile-Onset Multisystem Inflammatory Disease
Iomid Syndrome	Neonatal-Onset Multisystem Inflammatory Disease
Nomid Syndrome	Prieur-Griscelli Syndrome
Neonatal Onset Multisystem Inflammatory Disease	Chronic Infantile Neurological, Cutaneous And Articular Syndrome
Iomid	Infantile Onset Multisystem Inflammatory Disease
Prieur Griscelli Syndrome	Chronic Infantile Neurological Cutaneous And Articular Syndrome
Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome	Chronic Infantile Neurologic Cutaneous And Articular Syndrome
Chronic Infantile Neurological, Cutaneous, And Articular Syndrome	Cryopyrin-Associated Periodic Syndromes

Cervical Adenitis

Cervical Lymphadenitis

Blau Syndrome

Arthrocutaneouveal Granulomatosis	Jabs Syndrome
BLAUS	Sarcoidosis, Early-Onset
Acug	Granulomatous Inflammatory Arthritis, Dermatitis, And Uveitis, Familial
Eos	Granulomatosis, Familial Juvenile Systemic
Granulomatosis, Familial, Blau Type	Familial Juvenile Systemic Granulomatosis
Early Onset Sarcoidosis	Synovitis Granulomatous With Uveitis And Cranial Neuropathies
Early-Onset Sarcoidosis	Familial Granulomatosis, Blau Type
Pediatric Granulomatous Arthritis	Familial Granulomatosis Blau Type
Familial Granulomatous Inflammatory Arthritis Dermatitis And Uveitis	Synovitis, Granulomatous, With Uveitis And Cranial Neuropathies

Pyoderma Gangrenosum

Phagedenic Pyoderma

Phagedena Geometric

Familial Mediterranean Fever

Periodic Fever Syndrome	FMF
Benign Paroxysmal Peritonitis	Periodic Disease
Recurrent Polyserositis	Familial Paroxysmal Polyserositis
Periodic Fever	Familial Mediterranean Fever, Autosomal Recessive
Familial Mediterranean Fever, Ar	Polyserositis, Recurrent
Polyserositis, Familial Paroxysmal	Periodic Peritonitis
Mef	Reimann Periodic Disease
Siegal-Cattan-Mamou Disease	Wolff Periodic Disease
Benign Recurrent Polyserositis	Mediterranean Fever, Familial
ARFMF	Autosomal Recessive Familial Mediterranean Fever
Fever, Mediterranean, Familial, Autosomal Recessive	Hereditary Autoinflammatory Diseases
Fmf - [Familial Mediterranean Fever]	Periodic Polyserositis
Periodic Familial Polyserositis	Periodic Familial Peritonitis
Paroxysmal Polyserositis	Hereditary Amyloid Nephropathy
Familial Recurrent Polyserositis	Familial Non-Neuropathic Amyloidosis
Armenian Disease	Riemann Periodic Disease
Siegal Cattan Mamou Disease

Punctate Porokeratosis

Porokeratosis, Punctate

Keratoderma, Palmoplantar, Punctate Type Ii

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Linear Porokeratosis

Congenital Facial Linear Porokeratosis

Porokeratosis, Linear

Nutritional Deficiency Disease

Malnutrition	Nutritional Disorder
Nutritional Deficiency	Nutrition
Deficiency Diseases	Carbamoyl-Phosphate Synthase I Deficiency Disease
Nutrition Disorders

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne

Papa Syndrome	Fra
Familial Recurrent Arthritis	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne
PAPAS	Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pyogenic Arthritis, Pyoderma Gangrenosum, And Severe Cystic Acne	Pyogenic Sterile Arthritis, Pyoderma Gangrenosum And Acne

Familial Cold Autoinflammatory Syndrome 2

FCAS2	Nlrp12-Associated Hereditary Periodic Fever Syndrome
Familial Cold Autoinflammatory Syndrome Type 2	Familial Cold-Induced Autoinflammatory Syndrome Type 2
Naps12	Familial Cold Autoinflammatory Syndrome 2, Susceptibility To
Autoinflammatory Syndrome, Cold, Familial, Type 2

Aphthous Stomatitis

Oral Ulcer	Canker Sore
Aphtha	Aphthous Ulceration
Oral Aphthae	Oral Aphthous Ulcer
Canker Sores	Stomatitis, Aphthous
Minor Oral Aphthous Ulceration

Familial Cold Autoinflammatory Syndrome

Familial Cold Urticaria	Fcas
Familial Polymorphous Cold Eruption	Fcu
Cold Hypersensitivity

Peroxisomal Disease

Peroxisomal Disorder	Peroxisomal Disorders
Peroxisomal Defects

Intestinal Obstruction

Inspissated Milk Syndrome

Milk Curd Syndrome

Phenylketonuria

Phenylalanine Hydroxylase Deficiency	PKU
Pah Deficiency	Folling Disease
Maternal Phenylketonuria	Phenylketonurias
Oligophrenia Phenylpyruvica	Hyperphenylalaninemia, Non-Pku Mild
Folling'S Disease	Phenylalaninemia
Mild Phenylketonuria	Mild Pku
Variant Pku	Variant Phenylketonuria
Mpku	Deficiency Disease, Phenylalanine Hydroxylase
Phenylketonuria, Maternal	Phenylalanine Hydroxylase Deficiency Disease
Hyperphenylalaninemic Embryopathy	Maternal Pku
Maternal Hyperphenylalaninemia	Phenylketonuric Embryopathy
Hyperphenylalaninemia	HPA
Non-Phenylketonuria Hyperphenylalaninemia	NON-PKU HPA
Phenylketonuria Maternal	Classical Phenylketonuria
Hyperphenylalaninaemia	Pku - [Phenylketonuria]

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Muckle-Wells Syndrome

MWS	Urticaria-Deafness-Amyloidosis Syndrome
Uda Syndrome	Neutrophilic Urticaria
Urticaria, Deafness And Amyloidosis	Cryopyrin-Associated Periodic Syndrome 2
Caps2	Muckle Wells Syndrome
Urticaria-Deafness-Amyloidosis	Cryopyrin-Associated Periodic Syndromes

Galactosemia I

Galactosemia	Galt Deficiency
Classic Galactosemia	Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose-1-Phosphate Uridyltransferase Deficiency	GALAC1
Galactosemia, Classic	Galactosemia Type 1
Galactosemias	Classical Galactosemia
Galactosaemia	Galactose Intolerance
Epimerase Deficiency Galactosemia	Galactokinase Deficiency Disease
Galactose Epimerase Deficiency	Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
Gale Deficiency	Galk Deficiency
Udp-Galactose-4-Epimerase Deficiency Disease	Utp Hexose-1-Phosphate Uridylyltransferase Deficiency
Galactosemia 1	Galactosemia, Duarte Variant
Deficiency Of Galactokinase	Udpglucose 4-Epimerase Deficiency Disease
Classical Galactosaemia	Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency
Classic Galactosaemia	Deficiency Of Hexose-1-Phosphate Uridylyltransferase
Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase	Deficiency Of Galactose-1-Phosphate Uridylyltransferase
Galactose-1-Phosphate Uridyl Transferase Deficiency	Transferase Deficiency Galactosemia
Deficiency Of Uridyl Transferase	Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase
Utp-Hexose-1-Phosphate Uridyltransferase Deficiency

Erysipeloid

Infection Due To Erysipelothrix Rhusiopathiae

Erysipelothrix Infection

Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay

SIFD	Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome
Sifd Syndrome

Psoriasis 15

Psors15

Pharyngitis

Acute Pharyngitis	Chronic Pharyngitis
Acute Sore Throat	Chronic Sore Throat
Persistent Sore Throat	Pharyngeal Diseases
Chronic Pharyn/Nasopharyngitis	Chronic Pharyngitis And Nasopharyngitis
Inflamed Throat	Pharyngeal Disease
Pharyngeal Disorder	Pharyngitis - Acute
Sore Throat - Chronic	Acute Pharyngitis Nos
Acute Sore Throat Nos	Acute Throat Inflammation
Infective Pharyngitis	Infection Of Pharynx
Acute Infective Pharyngitis	Acute Infective Pharyngitis Nos
Acute Pharyngeal Inflammation	Inflammation Of The Throat
Throat Inflammation	Throat Infection
Putrid Pharyngitis	Pharyngeal Inflammation
Pharyngitis Nos	Chronic Throat Pain
Throat Catarrh

Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects

Child Syndrome	Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs
Child Nevus	Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects
Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects	Ichthyosis, Child Syndrome
Child Syndrome Ichthyosis	CHILD

Ck Syndrome

CKS	X-Linked Intellectual Disability-Microcephaly-Cortical Malformation-Thin Habitus Syndrome
Mental Retardation, X-Linked, With Thin Body Habitus And Cortical Malformation

Erysipelas

Diarrhea

Diarrhoea

Diarrhea Of Presumed Infectious Origin

Cataract 34, Multiple Types

Cataract, Autosomal Recessive Congenital 3	Cataract 34 Multiple Types
CTRCT34	Catc3
Cataract 34, Multiple Types, With Or Without Microcornea	Autosomal Recessive Congenital Cataract 3
Cataract 34 Multiple Types With Or Without Microcornea	Cataract, Multiple Types, Type 34

Pityriasis Rubra Pilaris

PRP	Devergie'S Disease
Prp - [Pityriasis Rubra Pilaris]

Periostitis

Pyoderma

Myopathy

Muscular Diseases

Myopathies

Methylmalonic Acidemia

Methylmalonic Aciduria	Mma
Acidemia, Methylmalonic	Isolated Methylmalonic Acidemia

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

Behcet Syndrome

Behcet Disease	Behcet'S Syndrome
Behcet'S Disease	Behçet Disease
Bd	Adamantiades-Behcet Disease
Triple Symptom Complex	Behçet'S Disease
Behet'S Syndrome	Bd Syndrome
Behçet Syndrome	Behçet'S Syndrome
Behcet Triple Symptom Complex	Malignant Aphthosis
Old Silk Route Disease	Adamantiades-Behçet Disease

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08857	MVK Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MVK	VGNC	VGNC:82492
Canis familiaris	MVK	VGNC	VGNC:43509
Mus musculus	MVK	MGD	MGI:107624
Bos taurus	MVK	VGNC	VGNC:31768
Rattus norvegicus	MVK	RGD	RGD:621295
Macaca mulatta	MVK	VGNC	VGNC:75084
Others	MVK	NCBI