Disease-gene associations mined from literature

Literature associating ALKBH5 and Kabuki syndrome

ALKBH5 [ENSP00000382091]

Alpha-ketoglutarate-dependent dioxygenase alkB homolog 5; Dioxygenase that demethylates RNA by oxidative demethylation: specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes. Can also demethylate N(6)- methyladenosine in single-stranded DNA (in vitro). Requires molecular oxygen, alpha-ketoglutarate and iron. Demethylation of m6A mRNA affects mRNA processing and export. Required for spermatogenesis (By similarity); Belongs to the alkB family.

Synonyms:  ALKBH5,  ALKBH5p,  hALKBH5,  ALKBH5-001,  ALKBH5-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM