Gene: MEIG1
Alternate names for this Gene: SPATA39|bA2K17.3
Gene Summary:
Gene is located in Chromosome: 10
Location in Chromosome : 10p13
Description of this Gene: meiosis/spermiogenesis associated 1
Type of Gene: protein-coding
Gene: DCLRE1C
Alternate names for this Gene: A-SCID|DCLREC1C|RS-SCID|SCIDA|SNM1C
Gene Summary: This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 10
Location in Chromosome : 10p13
Description of this Gene: DNA cross-link repair 1C
Type of Gene: protein-coding
rs121908159 in
MEIG1;DCLRE1C gene and
Omenn Syndrome
PMID 15731174 2005 Omenn syndrome due to ARTEMIS mutations.
PMID 25917813 2015 Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.
PMID 15071507 2004 Functional and biochemical dissection of the structure-specific nuclease ARTEMIS.
PMID 19953608 2010 The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.