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)
End	156,893,216 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	29,583,388 bp
RNA expression pattern
	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
	n/a
Orthologs
Databases	NCBI: entry; OMA: entry
	64327
	56873
	ENSG00000105983
	ENSMUSG00000010721
	Q8WVP7
	Q9JIT0
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
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
	Wikidata
View/Edit Human	View/Edit Mouse

Limb region 1 protein homolog is a protein that in humans is encoded by the LMBR1 gene.^[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 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.^[7]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000105983 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000010721 – Ensembl, May 2017
↑ "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, et al. (August 1999). "A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36". Genomics. 57 (3): 342–351. doi:10.1006/geno.1999.5796. PMID 10329000.
↑ Ianakiev P, van Baren MJ, Daly MJ, Toledo SP, Cavalcanti MG, Neto JC, et al. (January 2001). "Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene". American Journal of Human Genetics. 68 (1): 38–45. doi:10.1086/316955. PMC 1234933. PMID 11090342.
1 2 "Entrez Gene: LMBR1 limb region 1 homolog (mouse)".

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.

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000105983 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000010721 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Heus_1999-5] Heus HC, Hing A, van Baren MJ, Joosse M, Breedveld GJ, Wang JC, et al. (August 1999). "A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36". Genomics. 57 (3): 342–351. doi:10.1006/geno.1999.5796. PMID 10329000.

[Ianakiev_2001-6] Ianakiev P, van Baren MJ, Daly MJ, Toledo SP, Cavalcanti MG, Neto JC, et al. (January 2001). "Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene". American Journal of Human Genetics. 68 (1): 38–45. doi:10.1086/316955. PMC 1234933. PMID 11090342.

[entrez-7] 1 2 "Entrez Gene: LMBR1 limb region 1 homolog (mouse)".

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LMBR1

References

Further reading