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Mutations in PSAP have been associated with Gaucher disease and metachromatic leukodystrophy

The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide

This ABC full-transporter is a member of the MRP subfamily which is involved in multi-drug resistance

It possesses at least two conserved domains that could be important for its function

OSTCN Polyclonal Antibody, 50ul Centrifuge Tube (Bottle) Take on your next challengeThis gene encodes a highly abundant bone protein secreted by osteoblasts that regulates bone remodeling and energy metabolism. The encoded protein contains a Gla (gamma carboxyglutamate) domain, which functions in binding to calcium and hydroxyapatite, the mineral component of bone. Serum osteocalcin levels may be negatively correlated with metabolic syndrome. Read through transcription exists between this gene and the neighboring upstream gene, PMF1