DISEASES

Disease-gene associations mined from literature

Literature associating MSL3 and Aicardi syndrome

MSL3 [ENSP00000312244]

Male-specific lethal 3 homolog; Has a role in chromatin remodeling and transcriptional regulation (PubMed:20018852, PubMed:20657587, PubMed:20943666, PubMed:21217699, PubMed:30224647). Has a role in X inactivation . Component of the MSL complex which is responsible for the majority of histone H4 acetylation at 'Lys-16' which is implicated in the formation of higher-order chromatin structure . Specifically recognizes histone H4 monomethylated at 'Lys-20' (H4K20Me1) in a DNA-dependent manner and is proposed to be involved in chromosomal targeting of the MSL complex (PubMed:20657587, PubMed:20943666). ECO:0000269|PubMed:16543150, ECO:0000269|PubMed:20018852, ECO:0000269|PubMed:20657587, ECO:0000269|PubMed:20943666, ECO:0000269|PubMed:21217699, ECO:0000269|PubMed:22547026,

Synonyms:  MSL3,  MSL3p,  hMSL3,  A0A3B3IRI6,  A0A3B3IRN2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM