Low-density lipoprotein receptor-related protein 4

Low density lipoprotein receptor-related protein 4
Identifiers
Symbols LRP4 ; CLSS; CMS17; LRP-4; LRP10; MEGF7; SOST2
External IDs OMIM: 604270 MGI: 2442252 HomoloGene: 17964 GeneCards: LRP4 Gene
Orthologs
Species Human Mouse
Entrez 4038 228357
Ensembl ENSG00000134569 ENSMUSG00000027253
UniProt O75096 Q8VI56
RefSeq (mRNA) NM_002334 NM_001145857
RefSeq (protein) NP_002325 NP_001139329
Location (UCSC) Chr 11:
46.86 – 46.92 Mb
Chr 2:
91.46 – 91.51 Mb
PubMed search

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.[1][2] LRP-4 is a member of the Lipoprotein receptor-related protein family and may be a regulator of Wnt signaling.

Clinical significance

Mutations in this gene are associated with Cenani Lenz syndactylism.[3]

References

  1. "Entrez Gene: low density lipoprotein receptor-related protein 4".
  2. 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.
  3. 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

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