LMBR1

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LMBR1
Identifiers
Aliases LMBR1, ACHP, C7orf2, DIF14, PPD2, TPT, ZRS, LSS, THYP, limb development membrane protein 1
External IDs MGI: 1861746 HomoloGene: 49706 GeneCards: LMBR1
Gene location (Human)
Chromosome 7 (human)
Chr. Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for LMBR1
Genomic location for LMBR1
Band 7q36.3 Start 156,668,946 bp[1]
End 156,893,230 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_020295

RefSeq (protein)

NP_064691

Location (UCSC) Chr 7: 156.67 – 156.89 Mb Chr 7: 29.23 – 29.38 Mb
PubMed search [3] [4]
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 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[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000105983 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000010721 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  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. PMID 10329000. doi:10.1006/geno.1999.5796. 
  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. PMC 1234933Freely accessible. PMID 11090342. doi:10.1086/316955. 
  7. ^ a b "Entrez Gene: LMBR1 limb region 1 homolog (mouse)". 

Further reading[edit]