Anti -LMBR1 (Limb Region 1 Protein Homolog, Differentiation-related Gene 14 Protein, C7orf2, DIF14, ACHP, FLJ11665, PPD2, TPT)

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

Chromosome: 7; NC_000007.13 (156470537..156685902, complement). Location: 7q36

Monoclonal

IgG2a,k

4A1

Mouse

Recognizes human LMBR1.

Affinity Purified
Purified by Protein A affinity chromatography.

Supplied as a liquid in PBS, pH 7.2.

May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

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.

Probable lysosomal cobalamin transporter. Required to export cobalamin from lysosomes allowing its conversion to cofactors. Isoform 3 may play a role in the assembly of hepatitis delta virus (HDV).

Antibodies; Abs to Receptors

ELISA (EL/EIA), Western Blot (WB)

Suitable for use in ELISA and Western Blot.

55,098 Da[Similar Products]

limb development membrane protein 1

limb region 1 protein homolog; limb region 1 homolog; differentiation-related gene 14 protein

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]

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.

All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.

While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.