LMBR1 Antibody (Center) Blocking Peptide

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, multi-pass; Membrane protein, integral; Receptor, misc.

Chromosomal Location of Human Ortholog: 7q36

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