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  2. PMVK - phosphomevalonate kinase Gene

PMVK - phosphomevalonate kinase Gene

Homo sapiens

Also known as PMK; PMKA; PMKASE; POROK1; HUMPMKI

Gene ID: 10654 | Gene type: protein coding

About PMVK

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:154,924,740-154,942,658 (from NCBI)

This gene has 1 transcript (splice variant), 197 orthologues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 26.9), liver (RPKM 17.8) and 25 other tissues.

Summary

This gene encodes a peroxisomal Enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent Enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, which is the fifth step in the mevalonate pathway of isoprenoid biosynthesis. Mutations in this gene are linked to certain types of porokeratosis including disseminated superficial porokeratosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

PMVK Products(4)

mRNA Protein Name
NM_001323011.3 NP_001309940.1 phosphomevalonate kinase isoform 2
NM_001323012.3 NP_001309941.1 phosphomevalonate kinase isoform 3
NM_001348696.2 NP_001335625.1 phosphomevalonate kinase isoform 4
NM_006556.4 NP_006547.1 phosphomevalonate kinase isoform 1

PMVK Protein Structure

P-mevalo_kinase

P-mevalo_kinase: Phosphomevalonate kinase (14 - 125)

  • 0
  • 100
  • 192 a.a.
Protein Preferred Names Protein Names

phosphomevalonate kinase

testis tissue sperm-binding protein Li 95mP

Recombinant PMVK Proteins

Cat. No. Product Name Accession Purity
HY-P71217 PMVK Protein, Human (His) Q15126 (M1-L192) ≥95%

Related Diseases

Diseases Alias
Porokeratosis 1, Multiple Types

Porokeratosis Of Mibelli

POROK1

Porokeratosis 1, Mibelli Type

Linear Porokeratosis

Congenital Facial Linear Porokeratosis

Porokeratosis, Linear

Porokeratosis

Disseminated Superficial Actinic Porokeratosis

Dsap

Porokeratosis Of Mibelli

Porokeratosis, Disseminated Superficial Actinic

Porokeratosis, Disseminated Superficial Actinic, 1

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

Nutritional Deficiency Disease

Malnutrition

Nutritional Disorder

Nutritional Deficiency

Nutrition

Deficiency Diseases

Carbamoyl-Phosphate Synthase I Deficiency Disease

Nutrition Disorders

Discitis
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

Orthologs Information

Species Symbol Source ID
Canis familiaris PMVK VGNC VGNC:44739
Felis catus PMVK VGNC VGNC:68928
Macaca mulatta PMVK VGNC VGNC:106474
Rattus norvegicus PMVK RGD RGD:1310812
Bos taurus PMVK VGNC VGNC:33078
Mus musculus PMVK MGD MGI:1915853
Others PMVK NCBI