Low-density lipoprotein receptor-related protein 4

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Low density lipoprotein receptor-related protein 4
Identifiers
Symbols LRP4 ; CLSS; LRP-4; LRP10; MEGF7; SOST2
External IDs OMIM604270 MGI2442252 HomoloGene17964 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:
46.88 – 46.94 Mb
Chr 2:
91.46 – 91.51 Mb
PubMed search [1] [2]

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[edit]

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

References[edit]

  1. ^ "Entrez Gene: low density lipoprotein receptor-related protein 4". 
  2. ^ Nakayama M, Nakajima D, Nagase T, Nomura N, Seki N, Ohara O (July 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, et al. (May 2010). "LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome". Am. J. Hum. Genet. 86 (5): 696–706. doi:10.1016/j.ajhg.2010.03.004. PMC 2869043. PMID 20381006. 

Further reading[edit]

References[edit]