Low-density lipoprotein receptor-related protein 4

From Wikipedia, the free encyclopedia
Jump to: navigation, search
LRP4
Identifiers
Aliases LRP4, CLSS, LRP-4, LRP10, MEGF7, SOST2, CMS17, Low density lipoprotein receptor-related protein 4, LDL receptor related protein 4
External IDs MGI: 2442252 HomoloGene: 17964 GeneCards: LRP4
Gene location (Human)
Chromosome 11 (human)
Chr. Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for LRP4
Genomic location for LRP4
Band 11p11.2 Start 46,856,868 bp[1]
End 46,918,642 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002334

NM_001145857
NM_172668

RefSeq (protein)

NP_002325

NP_001139329
NP_766256

Location (UCSC) Chr 11: 46.86 – 46.92 Mb Chr 11: 91.46 – 91.51 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Low-density lipoprotein receptor-related protein 4 (LRP-4), also known as multiple epidermal growth factor-like domains 7 (MEGF7), is a protein that in humans is encoded by the LRP4 gene.[5][6] LRP-4 is a member of the Lipoprotein receptor-related protein family and may be a regulator of Wnt signaling.

Clinical significance[edit]

Mutations in this gene are associated with Cenani Lenz syndactylism.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000134569 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027253 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ "Entrez Gene: low density lipoprotein receptor-related protein 4". 
  6. ^ Nakayama M, Nakajima D, Nagase T, Nomura N, Seki N, Ohara O (Jul 1998). "Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening". Genomics. 51 (1): 27–34. PMID 9693030. doi:10.1006/geno.1998.5341. 
  7. ^ Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B (May 2010). "LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome". American Journal of Human Genetics. 86 (5): 696–706. PMC 2869043Freely accessible. PMID 20381006. doi:10.1016/j.ajhg.2010.03.004. 

Further reading[edit]