DISEASES

Disease-gene associations mined from literature

Literature associating MLLT3 and syndromic microphthalmia 2

MLLT3 [ENSP00000369695]

Protein AF-9; Chromatin reader component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA (PubMed:20159561, PubMed:20471948, PubMed:25417107, PubMed:27105114, PubMed:27545619). Specifically recognizes and binds acylated histone H3, with a marked preference for histone H3 that is crotonylated (PubMed:25417107, PubMed:27105114, PubMed:27545619). Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors . Recognizes and binds histone H3 crotonylated at 'Lys-9' (H3K9cr), and with slightly lower affinity histone H3 crotonylated at 'Lys-18' (H3K18cr) . Also recognizes and binds histone H3 acetylated at 'Lys-9' (H3K9ac), but with lower affinity than crotonylated histone H3 . In the SEC complex, MLLT3 is required to recruit the complex to crotonylated histones . ECO:0000269|PubMed:20471948, ECO:0000269|PubMed:25417107,

Synonyms:  MLLT3,  MLLT3p,  hMLLT3,  A0A0D9SF09,  A0A0S2Z448 ...

Linkouts:  STRING  Pharos  UniProt  OMIM