ASPH Antibody

Background:

This gene is thought to play an important role in calciumhomeostasis. The gene is expressed from two promoters and undergoesextensive alternative splicing. The encoded set of proteins sharevarying amounts of overlap near their N-termini but havesubstantial variations in their C-terminal domains resulting indistinct functional properties. The longest isoforms (a and f)include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domainthat hydroxylates aspartic acid or asparagine residues in theepidermal growth factor (EGF)-like domains of some proteins,including protein C, coagulation factors VII, IX, and X, and thecomplement factors C1R and C1S. Other isoforms differ primarily inthe C-terminal sequence and lack the hydroxylase domain, and somehave been localized to the endoplasmic and sarcoplasmic reticulum.Some of these isoforms are found in complexes with calsequestrin,triadin, and the ryanodine receptor, and have been shown toregulate calcium release from the sarcoplasmic reticulum. Someisoforms have been implicated in metastasis.