Gene: MDC1

Alternate names for this Gene: NFBD1

Gene Summary: The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: mediator of DNA damage checkpoint 1

Type of Gene: protein-coding

Gene: MDC1-AS1

Alternate names for this Gene:

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rs115448006 in MDC1;MDC1-AS1 gene and 17 Hydroxyprogesterone measurement PMID 31169883 2019 Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease.

rs9262152 in MDC1;MDC1-AS1 gene and Rheumatoid Arthritis PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.