Full Product Name
LMBR1 Antibody
Product Synonym Names
ACHP; C7orf2; DIF14; FLJ11665; PPD2; TPT
Product Gene Name
anti-LMBR1 antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Species Reactivity
Human, Mouse, Rat
Purity/Purification
Antigen affinity purification
Immunogen
Fusion protein of LMBR1
Calculated Molecular Weight: 55kd
Buffer
PBS with 0.1% sodium azide and 50% glycerol pH 7.3.
Preparation and Storage
Store at -20 degree C. Avoid freeze / thaw cycles
ISO Certification
Manufactured in an ISO 9001:2015 Certified Laboratory.
Other Notes
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.
Applications Tested/Suitable for anti-LMBR1 antibody
ELISA (EIA)
NCBI/Uniprot data below describe general gene information for LMBR1. It may not necessarily be applicable to this product.
NCBI Accession #
NP_071903.2
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NCBI GenBank Nucleotide #
NM_022458.3
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UniProt Secondary Accession #
Q8N3E3; Q96QZ5; Q9H5N0; Q9HAG9; Q9UDN5; Q9Y6U2; A4D242[Other Products]
UniProt Related Accession #
Q8WVP7[Other Products]
Molecular Weight
59,458 Da
NCBI Official Full Name
limb region 1 protein homolog
NCBI Official Synonym Full Names
limb development membrane protein 1
NCBI Official Symbol
LMBR1??[Similar Products]
NCBI Official Synonym Symbols
LSS; TPT; ZRS; ACHP; PPD2; THYP; DIF14; C7orf2
??[Similar Products]
NCBI Protein Information
limb region 1 protein homolog; differentiation-related gene 14 protein; limb region 1 homolog
UniProt Protein Name
Limb region 1 protein homolog
UniProt Synonym Protein Names
Differentiation-related gene 14 protein
Protein Family
Limb region 1 protein
UniProt Gene Name
LMBR1??[Similar Products]
UniProt Synonym Gene Names
C7orf2; DIF14??[Similar Products]
UniProt Entry Name
LMBR1_HUMAN
NCBI Summary for LMBR1
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]
UniProt Comments for LMBR1
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; Receptor, misc.; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 7q36
Cellular Component: integral to membrane
Biological Process: embryonic digit morphogenesis
Disease: Syndactyly, Type Iv; Laurin-sandrow Syndrome; Polydactyly, Preaxial Ii; Tibia, Hypoplasia Or Aplasia Of, With Polydactyly; Acheiropody
Research Articles on LMBR1
1. T (traditional nomenclature: ZRS404G>T) in the ZRS within the LMBR1 gene.">Data describe extensive variation in limb phenotype in a large family and report on a novel sequence variation NG_009240.1: g.106737G>T (traditional nomenclature: ZRS404G>T) in the ZRS within the LMBR1 gene.
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