Recombinant Human OSTM1 Protein

Cat. No.: CLPP-00150932

Product Size: 10 µg Custom size

Product Overview

Description
CLPP-00150932 is recombinant human OSTM1 protein
Applications
ELISA, Western Blot
Protein Length
Protein fragment
Animal Free
No
Nature
Recombinant Protein
Species
Human
Form
Liquid
Sequence
SNSTVYFLNLFNHTLTCFEHNLQGNAHSLLQTKNYSEVCKNCREAYKTLSSLYSEMQKMNELENKAEPGTHLCIDVEDAMNITRKLWSRTFNCSVPCSDT
Tags
GST tag N-Terminus

Target Information

Protein Name
OSTM1
UniProt No.
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

pH
pH: 8.0
Constituents
0.31% Glutathione, 0.79% Tris HCl.
Shipping
Shipped on dry ice.
Storage
Store at -80 °C.

For Research Use Only. Not For Clinical Use.

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