Low-density lipoprotein receptor-related protein 4

LRP4
Identifiers
AliasesLRP4, CLSS, LRP-4, LRP10, MEGF7, SOST2, CMS17, Low density lipoprotein receptor-related protein 4, LDL receptor related protein 4
External IDsOMIM: 604270; MGI: 2442252; HomoloGene: 17964; GeneCards: LRP4; OMA:LRP4 - orthologs
Orthologs
SpeciesHumanMouse
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 MbChr 2: 91.29 – 91.34 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

Autoantibodies against LRP4 have been connected to a small fraction of myasthenia gravis cases.

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000134569Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027253Ensembl, 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. ^ "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. doi:10.1006/geno.1998.5341. PMID 9693030.
  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. doi:10.1016/j.ajhg.2010.03.004. PMC 2869043. PMID 20381006.

Further reading

[edit]