Lysyl Oxidase-Like 4

Alternative Names

  • LOXL4
  • LOXC
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OMIM Number

607318

NCBI Gene ID

84171

Uniprot ID

Q96JB6

Length

20,505 bases

No. of Exons

17

No. of isoforms

1

Protein Name

Lysyl oxidase homolog 4

Molecular Mass

84483 Da

Amino Acid Count

756

Genomic Location

chr10:98,247,689-98,268,193

Gene Map Locus
10q24.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_032211.6:c.1214A>CUnited Arab EmiratesNC_000010.11:g.98257696T>GNM_032211.6:c.1214A>C; NP_115587.6:p.Asp405Ala1983864
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