Gene: XRCC4

Alternate names for this Gene: SSMED

Gene Summary: The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternate transcript variants such as NM_022406 are unlikely to be expressed in some individuals due to a polymorphism (rs1805377) in the last splice acceptor site.

Gene is located in Chromosome: 5

Location in Chromosome : 5q14.2

Description of this Gene: X-ray repair cross complementing 4

Type of Gene: protein-coding

rs587779351 in XRCC4 gene and Dwarfism PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.

rs6452524 in XRCC4 gene and Hypertensive disease PMID 21626137 2011 Two-marker association tests yield new disease associations for coronary artery disease and hypertension.

rs587779351 in XRCC4 gene and Normal motor development PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.

rs587779351 in XRCC4 gene and PITUITARY DWARFISM I PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.

rs587779351 in XRCC4 gene and SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION PMID 25839420 2015 Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.

PMID 25728776 2015 Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.

PMID 26255102 2015 XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.

rs587779351 in XRCC4 gene and Short philtrum PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.

rs587779351 in XRCC4 gene and Speech Delay PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.