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LOXL3

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
LOXL3
Identifiers
AliasesLOXL3, LOXL, lysyl oxidase like 3, MYP28
External IDsOMIM:607163;MGI:1337004;HomoloGene:56591;GeneCards:LOXL3;OMA:LOXL3 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for LOXL3
Genomic location for LOXL3
Band2p13.1Start74,532,258bp[1]
End74,555,690bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for LOXL3
Genomic location for LOXL3
Band6 C3|6 35.94 cMStart83,011,154bp[2]
End83,029,543bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • tibia

  • cartilage tissue

  • tendon of biceps brachii

  • ventricular zone

  • monocyte

  • decidua

  • Descending thoracic aorta

  • ascending aorta

  • stromal cell of endometrium

  • gonad
Top expressed in
  • occiput

  • occipital bone

  • axial skeleton

  • chondrocranium

  • cartilage of bone

  • lateral part of occipital bone

  • human vertebral column

  • rib

  • metatarsal bones

  • lesser wing of sphenoid bone
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

84695

16950

Ensembl

ENSG00000115318

ENSMUSG00000000693

UniProt

P58215

Q9Z175

RefSeq (mRNA)

NM_001289164
NM_001289165
NM_032603

NM_013586

RefSeq (protein)

NP_001276093
NP_001276094
NP_115992

NP_038614

Location (UCSC)Chr 2: 74.53 – 74.56 MbChr 6: 83.01 – 83.03 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Lysyl oxidase homolog 3 is anenzyme that in humans is encoded by theLOXL3gene.[5][6]

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. TheN-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, andchemotaxis to each member of the family. Alternatively spliced transcript variants of this gene have been reported but their full-length nature has not been determined.[6]

Clinical significance

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An autosomal recessive mutation (missense variant) in the LOXL3 gene is one of the causes ofStickler syndrome, a disease wherecollagen is not crosslinked properly. Common features are highmyopia andcleft palate due toarthropathy (joint pathology) andvitreoretinopathy (pathology of theeye).[7]

See also

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References

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  1. ^abcGRCh38: Ensembl release 89: ENSG00000115318Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000000693Ensembl, 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. ^Jourdan-Le Saux C, Tomsche A, Ujfalusi A, Jia L, Csiszar K (Jun 2001). "Central nervous system, uterus, heart, and leukocyte expression of the LOXL3 gene, encoding a novel lysyl oxidase-like protein".Genomics.74 (2):211–8.doi:10.1006/geno.2001.6545.PMID 11386757.
  6. ^ab"Entrez Gene: LOXL3 lysyl oxidase-like 3".
  7. ^Alzahrani F, Al Hazzaa SA, Tayeb H, Alkuraya FS (2015). "LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome".Hum. Genet.134 (4):451–3.doi:10.1007/s00439-015-1531-z.PMID 25663169.S2CID 9869276.

Further reading

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