Gene: IL4I1

Alternate names for this Gene: FIG1|LAAO|LAO

Gene Summary: This gene encodes a secreted L-amino acid oxidase protein which primarily catabolizes L-phenylalanine and, to a lesser extent, L-arginine. The expression of this gene is induced by the cytokine interleukin 4 in B cells. This gene is also expressed in macrophages and dendritic cells. This protein may play a role immune system escape as it is expressed in tumor-associated macrophages and suppresses T-cell responses. This protein also contains domains thought to be involved in the binding of flavin adenine dinucleotide (FAD) cofactor. Multiple transcript variants encoding different isoforms have been found for this gene. Some transcripts of this gene share a promoter and exons of the 5' UTR with the overlapping NUP62 gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.33

Description of this Gene: interleukin 4 induced 1

Type of Gene: protein-coding

Gene: NUP62

Alternate names for this Gene: IBSN|SNDI|p62

Gene Summary: The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins and is localized to the nuclear pore central plug. This protein associates with the importin alpha/beta complex which is involved in the import of proteins containing nuclear localization signals. Multiple transcript variants of this gene encode a single protein isoform.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.33

Description of this Gene: nucleoporin 62

Type of Gene: protein-coding

rs1299491 in IL4I1;NUP62 gene and Meningococcal Infections PMID 20694013 2010 Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.

rs121917865 in IL4I1;NUP62 gene and STRIATONIGRAL DEGENERATION, INFANTILE (disorder) PMID 16786527 2006 Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.