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Rabbit Anti-DIF14/LMBR1/FITC Conjugated antibody
background:
LMBR1 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. LMBR1L (limb region 1 protein homolog-like), also known as LIMR (Lipocalin-1-interacting membrane receptor), is a 489 amino acid multi-pass membrane protein that is thought to act as a receptor for Lipocalin-1 and may also assist in its endocytosis.
Function:
Putative membrane receptor.
Subcellular Location:
Membrane.
Tissue Specificity:
Widely expressed with strongest expression in heart and pancreas.
DISEASE:
Defects in LMBR1 are associated with preaxial polydactyly type 2 (PPD2); also known as polydactyly of triphalangeal thumb. Polydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal. The mutations do not change the normal expression of LMBR1, but alter the expression of SHH by disrupting a long-range, cis-regulatory element of that gene.
Similarity:
Belongs to the LIMR family.
Database links:
Entrez Gene: 64327 Human
Entrez Gene: 56873 Mouse
Entrez Gene: 362295 Rat
Omim: 605522 Human
SwissProt: Q8WVP7 Human
SwissProt: Q9JIT0 Mouse
Unigene: 209989 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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