DNASE1L3-Gen
Synonym(e)
Deoxyribonuclease 1 Like 3; Deoxyribonuclease I Like 3; Deoxyribonuclease I-Like 3; Deoxyribonuclease I-Like III; DNAS1L3; DNase Gamma; DNase I Homolog Protein 2; DNase I Homolog Protein DHP2; DNase I-Like 3; EC 3.1.21.-; EC 3.1.21.1; Liver And Spleen DNase; LSD; LS-DNase; SLEB16
Definition
Das DNASE1L3-Gen (DNASE1L3 steht für „Deoxyribonuclease 1 Like 3“) ist ein Protein kodierendes Gen das auf Chromosom 3p14.3 lokalisiert ist. Für dieses Gen sind alternativ gespleißte Transkriptvarianten beobachtet worden, die für mehrere Isoformen kodieren.
Literatur
- Al-Mayouf SM et al. (2011) Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nature Genet 43: 1186-1188.
- International Consortium for Systemic Lupus Erythematosus Genetics et al. (2008) Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nature Genet 40: 204-210.
- Zervou MI et al. (2020) Association of the DNASE1L3 rs35677470 polymorphism with systemic lupus erythematosus, rheumatoid arthritis and systemic sclerosis: Structural biological insights. Mol Med Rep 22: 4492-4498.