Product Overview
Description
CLPP-00150933 is recombinant human OSTM1 protein, His tag
Protein Length
Protein fragment
Nature
Recombinant Protein
Endotoxin Level
< 1.000 Eu/µg
Sequence
MEPGPTAAQRRCSLPPWLPLGLLLWSGLALGALPFGSSPHRVFHDLLSEQQLLEVEDLSLSLLQGGGLGPLSLPPDLPDLDPECRELLLDFANSSAELTGCLVRSARPVRLCQTCYPLFQQVVSKMDNISRAAGNTSESQSCARSLLMADRMQIVVILSEFFNTTWQEANCANCLTNNSEELSNSTVYFLNLFNHTLTCFEHNLQGNAHSLLQTKNYSEVCKNCREAYKTLSSLYSEMQKMNELENKAEPGTHLCIDVEDAMNITRKLWSRTFNCSVPCSDTVP
Predicted Molecular Weight
30 kDa including tags
Target Information
Alternative Names
Chloride channel 7 beta subunit; GAIP-interacting protein N terminus; GIPN; GL; Grey lethal osteopetrosis; HSPC019; OPTB5; Osteopetrosis-associated transmembrane protein 1; Ostm1; OSTM1_HUMAN; OTTHUMP00000016938; OTTHUMP00000196342
Protein Function
Required for osteoclast and melanocyte maturation and function.
Involvement in Disease
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 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.
Shipping & Handling
Shipping
Shipped at Room Temperature.
Storage
Store at -20 °C or -80 °C.
