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Osteopetrosis-associated transmembrane protein

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Required for osteoclast and melanocyte maturation and function.

Below are the list of possible Osteopetrosis-associated transmembrane protein products. If you cannot find the target and/or product is not available in our catalog, please click here to contact us and request the product or submit your request for custom elisa kit production, custom recombinant protein production or custom antibody production. Custom ELISA Kits, Recombinant Proteins and Antibodies can be designed, manufactured and produced according to the researcher's specifications.
 

Osteopetrosis-associated transmembrane protein 1

 Osteopetrosis-associated transmembrane protein 1 ELISA Kit
 Osteopetrosis-associated transmembrane protein 1 Recombinant
 Osteopetrosis-associated transmembrane protein 1 Antibody
Also known as Osteopetrosis-associated transmembrane protein 1 (Chloride channel 7 beta subunit).
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 adolesce
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nce or adulthood. 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: EC 6.3.2.-; Ligase; Membrane protein, integral; Ubiquitin conjugating system; Ubiquitin ligase

Chromosomal Location of Human Ortholog: 6q21

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

Disease: Osteopetrosis, Autosomal Recessive 5
 OSTM1 ELISA Kit
 OSTM1 Recombinant
 OSTM1 Antibody
 GL ELISA Kit
 GL Recombinant
 GL Antibody
 HSPC019 ELISA Kit
 HSPC019 Recombinant
 HSPC019 Antibody
 UNQ6098/PRO21201 ELISA Kit
 UNQ6098/PRO21201 Recombinant
 UNQ6098/PRO21201 Antibody
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