Home > Product > Antibody > Rabbit Anti-DIF14/LMBR1/FITC Conjugated antibody
ACHP; C7orf2; DIF 14; DIF14; Differentiation related gene 14; Differentiation related gene 14 protein; Differentiation-related gene 14 protein; FLJ11665; Limb region 1 homolog (mouse); Limb region 1 homolog; Limb region 1 protein; Limb region 1 protein ho
Cat:
SL9563R-FITC
Species Reactivity:
(predicted: Human,Mouse,Rat,Dog,Pig,Cow,Horse,Rabbit,Sheep,)
Immunogen:
KLH conjugated synthetic peptide derived from human LMBR1/DIF14
Format:
Lyophilized or Liquid
Storage instructions:
Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of ant
Buffer:
0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Concentration:
1mg/ml
Clonality:
Polyclonal
Isotype:
IgG
Applications:
ICC=1:50-200IF=1:50-200not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.
Host:
Rabbit
Calculated MW:
55kDa
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Unit:
Price: $
Product PDFs
Datasheet:


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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