Disease-gene associations mined from literature

Literature associating SETD1A and Kabuki syndrome

SETD1A [ENSP00000262519]

Set1/Ash2 histone methyltransferase complex subunit SET1; Histone methyltransferase that specifically methylates 'Lys-4' of histone H3, when part of the SET1 histone methyltransferase (HMT) complex, but not if the neighboring 'Lys- 9' residue is already methylated. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. The non-overlapping localization with SETD1B suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic control of chromatin structure and gene expression; Lysine methyltransferases

Synonyms:  SETD1A,  SETD1Ap,  hSETD1A,  C9J2Z9,  O15047 ...

Linkouts:  STRING  Pharos  UniProt  OMIM