LMBR1 (limb region 1), also known as TPT, ACHP, PPD2 or DIF14, is a 490 amino acid multi-pass membrane protein that is widely expressed with strongest expression in heart and pancreas. Belonging to the LIMR family, LMBR1 shares 95% sequence identity with the mouse protein and may play crucial role in the evolution of limb and skeletal system. LMBR1 is critical for expression of sonic hedgehog (Shh) in the developing posterior limb bud mesenchyme. Mutations in the gene encoding LMBR1 is the cause of several rare conditions such as acheiropody (ACHP) and syndactyly type 4 (SDYT4). ACHP is an autosomal recessive inherited disorder characterized by bilateral congenital amputations of the hands and feet. SDYT4, an autosomal dominant trait, is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly, which involves all five digits. LMBR1 exists as three alternatively spliced isoforms.
Key Feature
Clonality
Polyclonal
Isotype
IgG
Host Species
Rabbit
Tested Applications
WBIPELISA
Species Reactivity
HumanMouseRat
Concentration
1mg/ml
Purification
Affinity purified
Target Information
Alternative Names
recommended for detection of LMBR1 of mouse rat and human origin by WB IP and ELISA
Tissue Specificity
recommended for detection of LMBR1 of mouse, rat and human origin by WB, IP and ELISA