Limb region 1 protein homolog is aprotein that in humans is encoded by theLMBR1gene.[5][6][7]
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 thesonic hedgehog (protein) 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 if this gene functions directly in limb development is unknown. Mutations and chromosomal deletions and rearrangements in this genic region are associated withacheiropody and preaxialpolydactyly, which likely result from altered sonic hedgehog expression.[7]
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Heus HC, Hing A, van Baren MJ, Joosse M, Breedveld GJ, Wang JC, Burgess A, Donnis-Keller H, Berglund C, Zguricas J, Scherer SW, Rommens JM, Oostra BA, Heutink P (Aug 1999). "A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36".Genomics.57 (3):342–51.doi:10.1006/geno.1999.5796.PMID10329000.
Hing AV, Helms C, Slaugh R, et al. (1996). "Linkage of preaxial polydactyly type 2 to 7q36".Am. J. Med. Genet.58 (2):128–35.doi:10.1002/ajmg.1320580208.PMID8533803.
Horikoshi T, Endo N, Shibata M, et al. (2003). "Disruption of the C7orf2/Lmbr1 genic region is associated with preaxial polydactyly in humans and mice".J. Bone Miner. Metab.21 (1):1–4.doi:10.1007/s007740300000.PMID12491086.S2CID13391423.
Sagai T, Masuya H, Tamura M, et al. (2004). "Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog ( Shh)".Mamm. Genome.15 (1):23–34.doi:10.1007/s00335-033-2317-5.PMID14727139.S2CID21869000.
