LMBR1

Limb region 1 homolog (mouse), also known as LMBR1, is a human gene.cite web | title = Entrez Gene: LMBR1 limb region 1 homolog (mouse)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64327| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: LMBR1 limb region 1 homolog (mouse)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64327| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Hing AV, Helms C, Slaugh R, "et al." |title=Linkage of preaxial polydactyly type 2 to 7q36. |journal=Am. J. Med. Genet. |volume=58 |issue= 2 |pages= 128–35 |year= 1996 |pmid= 8533803 |doi= 10.1002/ajmg.1320580208
*cite journal | author= |title=Toward a complete human genome sequence. |journal=Genome Res. |volume=8 |issue= 11 |pages= 1097–108 |year= 1999 |pmid= 9847074 |doi=
*cite journal | author=Heus HC, Hing A, van Baren MJ, "et al." |title=A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. |journal=Genomics |volume=57 |issue= 3 |pages= 342–51 |year= 1999 |pmid= 10329000 |doi= 10.1006/geno.1999.5796
*cite journal | author=Clark RM, Marker PC, Kingsley DM |title=A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice. |journal=Genomics |volume=67 |issue= 1 |pages= 19–27 |year= 2001 |pmid= 10945466 |doi= 10.1006/geno.2000.6225
*cite journal | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=
*cite journal | author=Ianakiev P, van Baren MJ , Daly MJ, "et al." |title=Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. |journal=Am. J. Hum. Genet. |volume=68 |issue= 1 |pages= 38–45 |year= 2001 |pmid= 11090342 |doi=
*cite journal | author=Dundar M, Gordon TM, Ozyazgan I, "et al." |title=A novel acropectoral syndrome maps to chromosome 7q36. |journal=J. Med. Genet. |volume=38 |issue= 5 |pages= 304–9 |year= 2001 |pmid= 11333865 |doi=
*cite journal | author=Clark RM, Marker PC, Roessler E, "et al." |title=Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. |journal=Genetics |volume=159 |issue= 2 |pages= 715–26 |year= 2002 |pmid= 11606546 |doi=
*cite journal | author=Lettice LA, Horikoshi T, Heaney SJ, "et al." |title=Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 11 |pages= 7548–53 |year= 2002 |pmid= 12032320 |doi= 10.1073/pnas.112212199
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Horikoshi T, Endo N, Shibata M, "et al." |title=Disruption of the C7orf2/Lmbr1 genic region is associated with preaxial polydactyly in humans and mice. |journal=J. Bone Miner. Metab. |volume=21 |issue= 1 |pages= 1–4 |year= 2003 |pmid= 12491086 |doi= 10.1007/s007740300000
*cite journal | author=Scherer SW, Cheung J, MacDonald JR, "et al." |title=Human chromosome 7: DNA sequence and biology. |journal=Science |volume=300 |issue= 5620 |pages= 767–72 |year= 2003 |pmid= 12690205 |doi= 10.1126/science.1083423
*cite journal | author=Lettice LA, Heaney SJ, Purdie LA, "et al." |title=A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. |journal=Hum. Mol. Genet. |volume=12 |issue= 14 |pages= 1725–35 |year= 2003 |pmid= 12837695 |doi=
*cite journal | author=Hillier LW, Fulton RS, Fulton LA, "et al." |title=The DNA sequence of human chromosome 7. |journal=Nature |volume=424 |issue= 6945 |pages= 157–64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Sagai T, Masuya H, Tamura M, "et al." |title=Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog ( Shh). |journal=Mamm. Genome |volume=15 |issue= 1 |pages= 23–34 |year= 2004 |pmid= 14727139 |doi= 10.1007/s00335-033-2317-5
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Wiemann S, Arlt D, Huber W, "et al." |title=From ORFeome to biology: a functional genomics pipeline. |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136–44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704
*cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, "et al." |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406
*cite journal | author=Mehrle A, Rosenfelder H, Schupp I, "et al." |title=The LIFEdb database in 2006. |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415–8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139

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