OSTM1, Polyclonal Antibody

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

>=95% as determined by SDS-PAGE
Immunogen Affinity Purified

Liquid

PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20 degree C for 24 months (Avoid repeated freeze / thaw cycles.)

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Small volumes of anti-OSTM1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

ELISA (EIA), Western Blot (WB), Immunoprecipitation (IP)

37,257 Da

osteopetrosis associated transmembrane protein 1

osteopetrosis-associated transmembrane protein 1

Osteopetrosis-associated transmembrane protein 1

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OSTM1_HUMAN

This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]

OSTM1: Required for osteoclast and melanocyte maturation and function. Defects in OSTM1 are the cause of osteopetrosis autosomal recessive type 5 (OPTB5); also called infantile malignant osteopetrosis 3. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or *****hood. OPTB5 patients manifest primary central nervous system involvement in addition to the classical stigmata of severe bone sclerosis, growth failure, anemia, thrombocytopenia and visual impairment with optic atrophy.

Protein type: Ubiquitin ligase; Ligase; Ubiquitin conjugating system; EC 6.3.2.-; Membrane protein, integral

Chromosomal Location of Human Ortholog: 6q21

Cellular Component: cytoplasm; cytosol; integral to membrane; intracellular membrane-bound organelle; lysosomal membrane; nucleus

Biological Process: osteoclast differentiation

Disease: Osteopetrosis, Autosomal Recessive 5

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