MSL complex subunit 3
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
This gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females. Thus, the human protein is thought to play a similar function in chromatin remodeling and transcriptional regulation, and it has been found as part of a complex that is responsible for histone H4 lysine-16 acetylation. This gene can undergo X inactivation. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 7 and 8. [provided by RefSeq, Jul 2010]
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 (PubMed:21217699). 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 (PubMed:16227571, PubMed:20657587, PubMed:16543150, PubMed:30224647). 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).
From NCBI Gene:
- BASILICATA-AKHTAR SYNDROME
Basilicata-Akhtar syndrome (MRXSBA): A mental retardation syndrome characterized by global developmental delay, progressive gait disturbance, poor or absent speech, facial dysmorphism, and mild distal skeletal anomalies. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. [MIM:301032]