Background information
Aspartyl/asparaginyl beta-hydroxylase (ASPH) is a widely-expressed type II membrane protein involved in calcium homeostasis. Located in the endoplasmic reticulum, ASPH specifically hydroxylates an Asp or Asn residue in the epidermal growth factor-like (EGF) domains of several proteins, using iron as a cofactor. The ASPH gene encodes 3 proteins, ASPH, Junctin, and Junctate (or Humbug), that differ significantly in their C-terminal domains. These ASPH gene products are expressed as five transcript variants that differ by their roles in calcium storage and release, hydroxylation capabilities, and tissue specificity. While all ASPH variants are expressed in skeletal muscle, only some are detected in heart, brain, pancreas, placenta, lung, liver, and kidney tissues. In the lumen of the endoplasmic reticulum, ASPH can be processed into two different forms.
