Rabbit anti-Human LMBR1 Polyclonal Antibody | anti-LMBR1 antibody

LMBR1, ID (LMBR1, C7orf2, DIF14, Limb region 1 protein homolog, Differentiation-related gene 14 protein) (PE)

Cat. Num. AAA6316547

• Gene Names: LMBR1; TPT; ZRS; ACHP; PPD2; DIF14; C7orf2
• Reactivity: Human
• Applications: Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: LMBR1; Polyclonal Antibody; ID (LMBR1; C7orf2; DIF14; Limb region 1 protein homolog; Differentiation-related gene 14 protein) (PE); Differentiation-related gene 14 protein; anti-LMBR1 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with R-Phycoerythrin (PE).

• Applicable Applications for anti-LMBR1 antibody: Western Blot (WB), FLISA
• Application Notes: WB: 1:100-500; FLISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: LMBR1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 261-290 amino acids from the Central region of human LMBR1.
• Conjugate: PE
• Note: Preservative Free
• Special Handling: Light sensitive
• Preparation and Storage: Store product at 4 degree C in the dark. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: PE conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Western Blot (WB)

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

Related Product Information for anti-LMBR1 antibody

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.

Product Categories/Family for anti-LMBR1 antibody

Antibodies; Receptors

References

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).

NCBI and Uniprot Product Information

• NCBI GI #: 21362112
• NCBI GeneID: 64327
• NCBI Accession #: NP_071903.2
• NCBI GenBank Nucleotide #: NM_022458.3
• UniProt Accession #: Q8WVP7; Q8N3E3; Q96QZ5; Q9H5N0; Q9HAG9; Q9UDN5; Q9Y6U2; A4D242
• Molecular Weight: 55,098 Da
• NCBI Official Full Name: limb region 1 protein homolog
• NCBI Official Synonym Full Names: limb development membrane protein 1
• NCBI Official Symbol: LMBR1
• NCBI Official Synonym Symbols: TPT; ZRS; ACHP; PPD2; DIF14; C7orf2
• NCBI Protein Information: limb region 1 protein homolog; limb region 1 homolog; differentiation-related gene 14 protein
• UniProt Protein Name: Limb region 1 protein homolog
• Protein Family: Limb region 1 protein
• UniProt Gene Name: LMBR1
• UniProt Synonym Gene Names: C7orf2; DIF14
• UniProt Entry Name: LMBR1_HUMAN

NCBI Description

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 Description

Function: Putative membrane receptor.

Subcellular location: Membrane; Multi-pass membrane protein

By similarity.

Tissue specificity: Widely expressed with strongest expression in heart and pancreas. Ref.8

Involvement in disease: Preaxial polydactyly 2 (PPD2) [MIM:174500]: Polydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal.Note: The disease is caused by mutations affecting the gene represented in this entry. Disease-causing mutations are located in intron 5 of LMBR1. The mutations do not alter normal LMBR1 expression and function, but disrupt a long-range, cis-regulatory element of SHH expression contained in LMBR1 intron 5 (Ref.10). Ref.10Acheiropody (ACHP) [MIM:200500]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry.Syndactyly 4 (SDTY4) [MIM:186200]: A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. SDTY4 is 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Disease-causing mutations are located in intron 5 of LMBR1. The mutations do not alter normal LMBR1 expression and function, but disrupt a long-range, cis-regulatory element of SHH expression contained in LMBR1 intron 5. Ref.11

Sequence similarities: Belongs to the LIMR family.

Sequence caution: The sequence AAD43188.1 differs from that shown. Reason: Erroneous initiation. The sequence AAK31345.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB15595.1 differs from that shown. Reason: Erroneous initiation.