Hyperimmunoglobulinemia D with periodic fever syndrome

Gene Information

Names

HUGO name: MVK

Alias(es):

  • LRBP
  • MVLK
  • Mevalonate kinase

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

May be a regulatory site in cholesterol biosynthetic pathway.

Catalytic activity:

ATP + (r)-mevalonate = ADP + (r)-5-phosphomevalonate

Subunit:

Homodimer

Subcellular location:

Cytoplasmic and peroxisomal.

Enzyme regulation:

Farnesyl- and geranyl-pyrophosphates are competitive inhibitors.

Similarity:

Belongs to the ghmp kinase family. Mevalonate kinase subfamily.

Expression

Expression pattern for human

Tissue Expression (%) Clones
larynx 31.85 1:838
adrenal gland 9.97 1:2677
spleen 6.88 4:15523
small intestine 4.86 1:5498
embryonic stem 4.10 1:6512
cervix 4.02 5:33205
human embryonic stem cells 3.70 1:7214
prostate 2.90 11:101396
other 2.47 41:442392
soft_tissue 2.32 1:11501

Animal models

Mouse