LMBR1

Limb region 1 homolog (mouse)
Identifiers
Symbols	LMBR1 ; TPT; ACHP; C7orf2; DIF14; FLJ11665; PPD2
External IDs	Template:OMIM5 Template:MGI HomoloGene: 49706
Gene ontology Molecular function Template:GNF GO Cellular component Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Limb region 1 homolog (mouse), also known as LMBR1, is a human 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 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.

Further reading

• 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. PMID 8533803.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. 1999. PMID 9847074.
• Heus HC, Hing A, van Baren MJ; et al. (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. PMID 10329000.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. PMID 11076863.CS1 maint: Multiple names: authors list (link)
• Ianakiev P, van Baren MJ , Daly MJ; et al. (2001). "Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene". Am. J. Hum. Genet. 68 (1): 38–45. PMID 11090342.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dundar M, Gordon TM, Ozyazgan I; et al. (2001). "A novel acropectoral syndrome maps to chromosome 7q36". J. Med. Genet. 38 (5): 304–9. PMID 11333865.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Clark RM, Marker PC, Roessler E; et al. (2002). "Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1". Genetics. 159 (2): 715–26. PMID 11606546.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lettice LA, Horikoshi T, Heaney SJ; et al. (2002). "Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly". Proc. Natl. Acad. Sci. U.S.A. 99 (11): 7548–53. doi:10.1073/pnas.112212199. PMID 12032320.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 12491086.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Scherer SW, Cheung J, MacDonald JR; et al. (2003). "Human chromosome 7: DNA sequence and biology". Science. 300 (5620): 767–72. doi:10.1126/science.1083423. PMID 12690205.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lettice LA, Heaney SJ, Purdie LA; et al. (2003). "A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly". Hum. Mol. Genet. 12 (14): 1725–35. PMID 12837695.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hillier LW, Fulton RS, Fulton LA; et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 14727139.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wiemann S, Arlt D, Huber W; et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMID 15489336.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mehrle A, Rosenfelder H, Schupp I; et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMID 16381901.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)