LMBR1, Polyclonal Antibody

Limb region 1 protein homolog; Differentiation-related gene 14 protein; LMBR1; C7orf2; DIF14

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit Ig

Rabbit

This LMBR1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 262-290 amino acids from the Central region of human LMBR1.

Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Vial Concentration: 0.45 (lot specific)

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-LMBR1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

This gene encodes a member of the LMBR1-like membrane
protein family. Another member of this protein family has been
shown to be a lipocalin transmembrane receptor. A highly conserved,
cis-acting regulatory module for the sonic hedgehog gene is located
within an intron of this gene. Consequently, disruption of this
genic region can alter sonic hedgehog expression and affect limb
patterning, but it is not known if this gene functions directly in
limb development. Mutations and chromosomal deletions and
rearrangements in this genic region are associated with acheiropody
and preaxial polydactyly, which likely result from altered sonic
hedgehog expression.

Cell Biology

Western Blot (WB), ELISA (EIA)

WB~~1:1000

LMBR1 Antibody (Center) western blot analysis in NCI-H292 cell line lysates (35ug/lane).This demonstrates the LMBR1 antibody detected the LMBR1 protein (arrow).

55098

limb development membrane protein 1

limb region 1 protein homolog

Limb region 1 protein homolog

C7orf2; DIF14  [Similar Products]

LMBR1_HUMAN

This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq, Jul 2008]

LMBR1: Putative membrane receptor. 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. Defects in LMBR1 are the cause of acheiropody (ACHP). Acheiropody is a very rare condition characterized by bilateral congenital amputations of the hands and feet. The specific malformative phenotype consists of a complete amputation of the distal epiphysis of the humerus, amputation of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of all the bones of the hands and feet. This syndrome of autosomal recessive inheritance has only been observed in Brazil so far. Defects in LMBR1 are a cause of syndactyly type 4 (SDTY4). SDTY4 is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5). A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally. The condition is inherited as an autosomal dominant trait. Belongs to the LIMR family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Membrane protein, multi-pass; Receptor, misc.

Chromosomal Location of Human Ortholog: 7q36

Cellular Component: integral to membrane

Biological Process: embryonic digit morphogenesis

Disease: Syndactyly, Type Iv; Polydactyly, Preaxial Ii; Laurin-sandrow Syndrome; Tibia, Hypoplasia Or Aplasia Of, With Polydactyly; Acheiropody

Rose, J.E., et al. Mol. Med. 16 (7-8), 247-253 (2010) :
Farooq, M., et al. Eur. J. Hum. Genet. 18(6):733-736(2010)
Rutsch, F., et al. Nat. Genet. 41(2):234-239(2009)
He, F., et al. PLoS ONE 3 (8), E2948 (2008) :
Wang, Z.Q., et al. Biochem. Biophys. Res. Commun. 355(2):312-317(2007)

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