LOXL3

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LOXL3
Identifiers
Aliases LOXL3, LOXL, lysyl oxidase like 3
External IDs MGI: 1337004 HomoloGene: 56591 GeneCards: LOXL3
Gene location (Human)
Chromosome 2 (human)
Chr. Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for LOXL3
Genomic location for LOXL3
Band 2p13.1 Start 74,532,414 bp[1]
End 74,555,690 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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 Mb Chr 2: 83.03 – 83.05 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Lysyl oxidase homolog 3 is an enzyme that in humans is encoded by the LOXL3 gene.[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. 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. Alternatively spliced transcript variants of this gene have been reported but their full-length nature has not been determined.[6]

Clinical significance[edit]

An autosomal recessive mutation (missense variant) in the LOXL3 gene is one of the causes of Stickler syndrome, a disease where collagen is not crosslinked properly. Common features are high myopia and cleft palate due to arthropathy (joint pathology) and vitreoretinopathy (pathology of the eye).[7]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000115318 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000693 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  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. ^ a b "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. 

Further reading[edit]