LMBR1

Limb region 1 protein homolog is a protein that in humans is encoded by the LMBR1 gene.[5][6][7]

LMBR1
Identifiers
AliasesLMBR1, ACHP, C7orf2, DIF14, PPD2, TPT, ZRS, LSS, THYP, limb development membrane protein 1
External IDsOMIM: 605522 MGI: 1861746 HomoloGene: 49706 GeneCards: LMBR1
Gene location (Human)
Chr.Chromosome 7 (human)[1]
Band7q36.3Start156,668,946 bp[1]
End156,893,216 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

64327

56873

Ensembl

ENSG00000105983

ENSMUSG00000010721

UniProt

Q8WVP7

Q9JIT0

RefSeq (mRNA)

NM_020295

RefSeq (protein)

NP_064691

Location (UCSC)Chr 7: 156.67 – 156.89 MbChr 5: 29.23 – 29.38 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 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.[7]

References

  1. GRCh38: Ensembl release 89: ENSG00000105983 - Ensembl, May 2017
  2. 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.
  5. 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. PMID 10329000.
  6. Ianakiev P, van Baren MJ, Daly MJ, Toledo SP, Cavalcanti MG, Neto JC, Silveira EL, Freire-Maia A, Heutink P, Kilpatrick MW, Tsipouras P (Jan 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. doi:10.1086/316955. PMC 1234933. PMID 11090342.
  7. "Entrez Gene: LMBR1 limb region 1 homolog (mouse)".

Further reading

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