Literature associating ALKBH5 and Kabuki syndrome
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 ...