Recombinant Human ALPL therapeutic protein (Asfotase alfa)

• Cat.No.: ALPL-P04H
• Product Overview: Recombinant Human TNSALP therapeutic protein is a fusion protein incorporating the catalytic domain of human tissue non-specific alkaline phosphatase (TNSALP; ALPL) and a bone-targeting peptide. It is designed to address the underlying cause of HPP by normalizing the genetically defective metabolic process, and preventing or reversing the severe and potentially life-threatening complications of life-long dysregulated mineral metabolism.

Specification

• Species: Human
• Tag: Non
• Description: This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects.
• Endotoxin: < 0.1 EU per μg of the protein
• Purity: >95%
• Alias: ALPL; HOPS; TNSALP; TNAP; APTNAP; AP-TNAP; Asfotase alfa

Gene Information

• Gene Name: ALPL alkaline phosphatase, liver/bone/kidney [ Homo sapiens ]
• Official Symbol: ALPL
• Synonyms: ALPL; alkaline phosphatase, liver/bone/kidney; HOPS; alkaline phosphatase, tissue-nonspecific isozyme; TNSALP; glycerophosphatase; tissue-nonspecific ALP; alkaline phosphomonoesterase; liver/bone/kidney-type alkaline phosphatase; alkaline phosphatase liver/bone/kidney isozyme; TNAP; APTNAP; AP-TNAP; FLJ40094; FLJ93059; MGC161443; MGC167935
• Gene ID: 249
• mRNA Refseq: NM_000478
• Protein Refseq: NP_000469
• MIM: 171760
• UniProt ID: P05186
• Chromosome Location: 1p36.12
• Pathway: Endochondral Ossification, organism-specific biosystem; Folate biosynthesis, organism-specific biosystem; Folate biosynthesis, conserved biosystem; Metabolic pathways, organism-specific biosystem; TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem
• Function: alkaline phosphatase activity; hydrolase activity; metal ion binding