LMBR1

LMBR1
Identifiers
Aliases	LMBR1, ACHP, C7orf2, DIF14, PPD2, TPT, ZRS, LSS, THYP, limb development membrane protein 1
External IDs	OMIM: 605522; MGI: 1861746; GeneCards: LMBR1
Gene location (Human) Chr. Chromosome 7 (human) Band 7q36.3 Start 156,668,946 bp End 156,893,216 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5 B1|5 14.81 cM Start 29,434,800 bp End 29,583,388 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve Achilles tendon bone marrow cell right adrenal cortex left adrenal gland left adrenal cortex epithelium of colon ganglionic eminence islet of Langerhans smooth muscle tissue Top expressed in spermatid spermatocyte Rostral migratory stream substantia nigra primary oocyte nucleus accumbens interventricular septum secondary oocyte Paneth cell temporal lobe More reference expression data BioGPS n/a
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 64327 56873 Ensembl ENSG00000105983 ENSMUSG00000010721 UniProt Q8WVP7 Q9JIT0 RefSeq (mRNA) NM_022458 NM_001350953 NM_001350954 NM_001350955 NM_001350956 NM_001350957 NM_001350958 NM_001363409 NM_001363410 NM_001363411 NM_001363412 NM_001363413 NM_020295 RefSeq (protein) NP_071903 NP_001337882 NP_001337883 NP_001337884 NP_001337885 NP_001337886 NP_001337887 NP_001350338 NP_001350339 NP_001350340 NP_001350341 NP_001350342 NP_064691 Location (UCSC) Chr 7: 156.67 – 156.89 Mb Chr 5: 29.43 – 29.58 Mb PubMed search
Wikidata
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Limb region 1 protein homolog is a protein that in humans is encoded by the LMBR1 gene.

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 (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 with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression.

Further reading

• Hing AV, Helms C, Slaugh R, Burgess A, Wang JC, Herman T, et al. (August 1995). "Linkage of preaxial polydactyly type 2 to 7q36". American Journal of Medical Genetics. 58 (2): 128–135. doi:10.1002/ajmg.1320580208. PMID 8533803.
• Sanger Centre T, Washington University Genome Sequencing Cente T (November 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–1108. doi:10.1101/gr.8.11.1097. PMID 9847074.
• Clark RM, Marker PC, Kingsley DM (2001). "A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice". Genomics. 67 (1): 19–27. doi:10.1006/geno.2000.6225. PMID 10945466.
• Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–1795. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
• Dundar M, Gordon TM, Ozyazgan I, Oguzkaya F, Ozkul Y, Cooke A, et al. (May 2001). "A novel acropectoral syndrome maps to chromosome 7q36". Journal of Medical Genetics. 38 (5): 304–309. doi:10.1136/jmg.38.5.304. PMC 1734869. PMID 11333865.
• Clark RM, Marker PC, Roessler E, Dutra A, Schimenti JC, Muenke M, et al. (October 2001). "Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1". Genetics. 159 (2): 715–726. doi:10.1093/genetics/159.2.715. PMC 1461845. PMID 11606546.
• Lettice LA, Horikoshi T, Heaney SJ, van Baren MJ, van der Linde HC, Breedveld GJ, et al. (May 2002). "Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly". Proceedings of the National Academy of Sciences of the United States of America. 99 (11): 7548–7553. Bibcode:2002PNAS...99.7548L. doi:10.1073/pnas.112212199. PMC 124279. PMID 12032320.
• Horikoshi T, Endo N, Shibata M, Heutink P, Hill RE, Noji S (2003). "Disruption of the C7orf2/Lmbr1 genic region is associated with preaxial polydactyly in humans and mice". Journal of Bone and Mineral Metabolism. 21 (1): 1–4. doi:10.1007/s007740300000. PMID 12491086. S2CID 13391423.
• Lettice LA, Heaney SJ, Purdie LA, Li L, de Beer P, Oostra BA, et al. (July 2003). "A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly". Human Molecular Genetics. 12 (14): 1725–1735. doi:10.1093/hmg/ddg180. PMID 12837695.
• Sagai T, Masuya H, Tamura M, Shimizu K, Yada Y, Wakana S, et al. (January 2004). "Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog ( Shh)". Mammalian Genome. 15 (1): 23–34. doi:10.1007/s00335-033-2317-5. PMID 14727139. S2CID 21869000.
• Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, et al. (October 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–2144. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, et al. (January 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.