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LOXL1

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LOXL1
Identifiers
AliasesLOXL1, LOL, LOXL, lysyl oxidase like 1
External IDsOMIM: 153456; MGI: 106096; HomoloGene: 4074; GeneCards: LOXL1; OMA:LOXL1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005576

NM_010729

RefSeq (protein)

NP_005567

NP_034859

Location (UCSC)n/aChr 9: 58.2 – 58.22 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Lysyl oxidase homolog 1, also known as LOXL1, is an enzyme which in humans is encoded by the LOXL1 gene.[4][5]

Function

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This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family.[4]

Clinical significance

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Polymorphisms of the LOXL1 gene are associated with pseudoexfoliation syndrome, a disease where the extracellular matrix contains abnormal amounts of cross-linked, amyloid-like fibrillar material and glycoproteins. When this happens in the eye, exfoliation glaucoma results.[6][7]

Interactions

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LOXL1 has been shown to interact with FBLN5.[8]

See also

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References

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  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032334Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ a b "Entrez Gene: LOXL1 lysyl oxidase-like 1".
  5. ^ Kenyon K, Modi WS, Contente S, Friedman RM (September 1993). "A novel human cDNA with a predicted protein similar to lysyl oxidase maps to chromosome 15q24-q25". The Journal of Biological Chemistry. 268 (25): 18435–7. doi:10.1016/S0021-9258(17)46643-9. PMID 7689553.
  6. ^ Schlötzer-Schrehardt U, Naumann GO (2006). "Ocular and systemic pseudoexfoliation syndrome". Am. J. Ophthalmol. 141 (5): 921–937. doi:10.1016/j.ajo.2006.01.047. PMID 16678509.
  7. ^ Thorleifsson G, Magnusson KP, Sulem P, Walters GB, Gudbjartsson DF, Stefansson H, Jonsson T, Jonasdottir A, Jonasdottir A, Stefansdottir G, Masson G, Hardarson GA, Petursson H, Arnarsson A, Motallebipour M, Wallerman O, Wadelius C, Gulcher JR, Thorsteinsdottir U, Kong A, Jonasson F, Stefansson K (2007). "Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma". Science. 317 (5843): 1397–400. Bibcode:2007Sci...317.1397T. doi:10.1126/science.1146554. PMID 17690259. S2CID 22289307.
  8. ^ Liu X, Zhao Y, Gao J, Pawlyk B, Starcher B, Spencer JA, Yanagisawa H, Zuo J, Li T (Feb 2004). "Elastic fiber homeostasis requires lysyl oxidase-like 1 protein". Nat. Genet. 36 (2). United States: 178–82. doi:10.1038/ng1297. ISSN 1061-4036. PMID 14745449.

Further reading

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