DISEASES

Disease-gene associations mined from literature

Literature associating RNASEH2A and immunodeficiency 38

RNASEH2A [ENSP00000221486]

Aicardi-Goutieres syndrome 4 protein; Catalytic subunit of RNase HII, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging- strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes; Belongs to the RNase HII family. Eukaryotic subfamily.

Synonyms:  RNASEH2A,  O75792,  RNASEH2A-001,  RNASEH2A-002,  RNASEH2A-003 ...

Linkouts:  STRING  Pharos  UniProt  OMIM