Laccase (Multicopper Reductase) Domain-Containing Protein 1

Alternative Names

  • LACC1
  • Fatty Acid Metabolism-Immunity Nexus Protein
  • FAMIN
  • Chromosome 13 Open Reading Frame 31
  • C13ORF31

Associated Diseases

Juvenile Arthritis
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OMIM Number

613409

NCBI Gene ID

144811

Uniprot ID

Q8IV20

Length

14,755 bases

No. of Exons

10

No. of isoforms

1

Protein Name

Purine nucleoside phosphorylase LACC1

Molecular Mass

47780 Da

Amino Acid Count

430

Genomic Location

chr13:43,879,177-43,893,931

Gene Map Locus
13q14.11

Description

This gene encodes an oxidoreductase that promotes fatty-acid oxidation, with concomitant inflammasome activation, mitochondrial and NADPH-oxidase-dependent reactive oxygen species production, and bactericidal activity of macrophages. The encoded protein forms a complex with fatty acid synthase on peroxisomes and is thought to be modulated by peroxisome proliferator-activated receptor signaling events. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_153218.4:c.827delLebanonNC_000013.11:g.43883856delPathogenicPathogenicJuvenile ArthritisNG_053160.1:g.10023del ; NM_153218.4:c.827del; NP_694950.2:p.Thr276fs1594890601814022
NM_153218.4:c.850T>C Saudi Arabiachr13:43883879Likely PathogenicPathogenicJuvenile ArthritisNG_053160.1:g.10046T>C; NM_153218.4:c.850T>C ; NP_694950.2:p.Cys284Arg730880295180673
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