SHPK
Function
Acts as a modulator of macrophage activation through control of glucose metabolism.
Involvement in disease
Sedoheptulokinase deficiency
SHPKD
An autosomal recessive metabolic disease characterized by increased urinary erythritol and sedoheptulose. Neonatal cholestasis, hypoglycemia, anemia, congenital arthrogryposis multiplex, multiple contractures and dysmorphisms have been reported in SHPKD patients, but the relationship of these features to the SHPKD is unclear.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the FGGY kinase family.
Tissue Specificity
Strongly expressed in liver, kidney and pancreas. Expressed at lower levels in placenta and heart. Very weakly expressed in lung and brain.
Cellular localization
- Cytoplasm
Alternative names
CARKL, SHPK, Sedoheptulokinase, SHK, Carbohydrate kinase-like protein