Low-density lipoprotein receptor-related protein 4

Last updated
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 OMIM: 604270 MGI: 2442252 HomoloGene: 17964 GeneCards: LRP4
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 Mb Chr 2: 91.29 – 91.34 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.

Contents

Clinical significance

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.

Related Research Articles

<span class="mw-page-title-main">Cenani–Lenz syndactylism</span> Medical condition

Cenani–Lenz syndactylism, also known as Cenani–Lenz syndrome or Cenani–syndactylism, is an autosomal recessive congenital malformation syndrome involving both upper and lower extremities.

<span class="mw-page-title-main">Lipoprotein lipase</span> Mammalian protein found in Homo sapiens

Lipoprotein lipase (LPL) (EC 3.1.1.34, systematic name triacylglycerol acylhydrolase (lipoprotein-dependent)) is a member of the lipase gene family, which includes pancreatic lipase, hepatic lipase, and endothelial lipase. It is a water-soluble enzyme that hydrolyzes triglycerides in lipoproteins, such as those found in chylomicrons and very low-density lipoproteins (VLDL), into two free fatty acids and one monoacylglycerol molecule:

<span class="mw-page-title-main">LDL receptor</span> Mammalian protein found in Homo sapiens

The low-density lipoprotein receptor (LDL-R) is a mosaic protein of 839 amino acids that mediates the endocytosis of cholesterol-rich low-density lipoprotein (LDL). It is a cell-surface receptor that recognizes apolipoprotein B100 (ApoB100), which is embedded in the outer phospholipid layer of very low-density lipoprotein (VLDL), their remnants—i.e. intermediate-density lipoprotein (IDL), and LDL particles. The receptor also recognizes apolipoprotein E (ApoE) which is found in chylomicron remnants and IDL. In humans, the LDL receptor protein is encoded by the LDLR gene on chromosome 19. It belongs to the low density lipoprotein receptor gene family. It is most significantly expressed in bronchial epithelial cells and adrenal gland and cortex tissue.

<span class="mw-page-title-main">Low-density lipoprotein receptor gene family</span>

The low-density lipoprotein receptor gene family codes for a class of structurally related cell surface receptors that fulfill diverse biological functions in different organs, tissues, and cell types. The role that is most commonly associated with this evolutionarily ancient family is cholesterol homeostasis. In humans, excess cholesterol in the blood is captured by low-density lipoprotein (LDL) and removed by the liver via endocytosis of the LDL receptor. Recent evidence indicates that the members of the LDL receptor gene family are active in the cell signalling pathways between specialized cells in many, if not all, multicellular organisms.

<span class="mw-page-title-main">LDL-receptor-related protein-associated protein</span> Protein-coding gene in the species Homo sapiens

Low density lipoprotein receptor-related protein-associated protein 1 also known as LRPAP1 or RAP is a chaperone protein which in humans is encoded by the LRPAP1 gene.

<span class="mw-page-title-main">AXIN1</span> Protein-coding gene in the species Homo sapiens

Axin-1 is a protein that in humans is encoded by the AXIN1 gene.

<span class="mw-page-title-main">LRP2</span> Mammalian protein found in Homo sapiens

Low density lipoprotein receptor-related protein 2 also known as LRP-2 or megalin is a protein which in humans is encoded by the LRP2 gene.

<span class="mw-page-title-main">Proto-oncogene Wnt-1</span> Protein-coding gene in the species Homo sapiens

Proto-oncogene Wnt-1, or Proto-oncogene Int-1 homolog is a protein that in humans is encoded by the WNT1 gene.

<span class="mw-page-title-main">LRP1</span> Mammalian protein found in Homo sapiens

Low density lipoprotein receptor-related protein 1 (LRP1), also known as alpha-2-macroglobulin receptor (A2MR), apolipoprotein E receptor (APOER) or cluster of differentiation 91 (CD91), is a protein forming a receptor found in the plasma membrane of cells involved in receptor-mediated endocytosis. In humans, the LRP1 protein is encoded by the LRP1 gene. LRP1 is also a key signalling protein and, thus, involved in various biological processes, such as lipoprotein metabolism and cell motility, and diseases, such as neurodegenerative diseases, atherosclerosis, and cancer.

<span class="mw-page-title-main">Frizzled-5</span> Protein-coding gene in the species Homo sapiens

Frizzled-5(Fz-5) is a protein that in humans is encoded by the FZD5 gene.

<span class="mw-page-title-main">Frizzled-1</span> Protein-coding gene in the species Homo sapiens

Frizzled-1(Fz-1) is a protein that in humans is encoded by the FZD1 gene.

<span class="mw-page-title-main">Frizzled-8</span> Protein-coding gene in the species Homo sapiens

Frizzled-8(Fz-8) is a protein that in humans is encoded by the FZD8 gene.

<span class="mw-page-title-main">Frizzled-4</span> Protein-coding gene in the species Homo sapiens

Frizzled-4(Fz-4) is a protein that in humans is encoded by the FZD4 gene. Fz-4 has also been designated as CD344.

<span class="mw-page-title-main">LRP5</span> Protein-coding gene in the species Homo sapiens

Low-density lipoprotein receptor-related protein 5 is a protein that in humans is encoded by the LRP5 gene. LRP5 is a key component of the LRP5/LRP6/Frizzled co-receptor group that is involved in canonical Wnt pathway. Mutations in LRP5 can lead to considerable changes in bone mass. A loss-of-function mutation causes osteoporosis pseudoglioma syndrome with a decrease in bone mass, while a gain-of-function mutation causes drastic increases in bone mass.

<span class="mw-page-title-main">LRP6</span> Protein-coding gene in the species Homo sapiens

Low-density lipoprotein receptor-related protein 6 is a protein that in humans is encoded by the LRP6 gene. LRP6 is a key component of the LRP5/LRP6/Frizzled co-receptor group that is involved in canonical Wnt pathway.

<span class="mw-page-title-main">Low-density lipoprotein receptor adapter protein 1</span> Protein-coding gene in the species Homo sapiens

Low-density lipoprotein receptor adapter protein 1 is a protein that in humans is encoded by the LDLRAP1 gene.

<span class="mw-page-title-main">LRP1B</span> Protein-coding gene in the species Homo sapiens

Low-density lipoprotein receptor-related protein 1B is a protein that in humans is encoded by the LRP1B gene.

<span class="mw-page-title-main">DKK2</span> Protein-coding gene in the species Homo sapiens

Dickkopf-related protein 2 is a protein in the Dickkopf family that in humans is encoded by the DKK2 gene.

<span class="mw-page-title-main">KREMEN1</span> Protein-coding gene in the species Homo sapiens

Kremen protein 1 is a protein that in humans is encoded by the KREMEN1 gene. Kremen1 is conserved in chordates including amphioxus and most vertebrate species. The protein is a type I transmembrane receptor of ligands Dickkopf1, Dickkopf2, Dickkopf3, Dickkopf4, EpCAM and Rspondin1.

<span class="mw-page-title-main">LRP3</span> Protein-coding gene in the species Homo sapiens

Low density lipoprotein receptor-related protein 3 (LRP-3) is a protein that in humans is encoded by the LRP3 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000134569 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027253 - Ensembl, 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