DISEASES

Disease-gene associations mined from literature

Literature associating HORMAD2 and autoimmune glomerulonephritis

HORMAD2 [ENSP00000336984]

HORMA domain-containing protein 2; Essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity. Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes. Required for the DNA double-strand break-independent, BRCA1-dependent activation of ATR on the sex chromosomes that is essential for normal sex body formation (By similarity).

Synonyms:  HORMAD2,  HORMAD2p,  hHORMAD2,  F8WES9,  Q8N7B1 ...

Linkouts:  STRING  Pharos  UniProt