MSL3

Chr X

MSL complex subunit 3

Also known as: MRSXBA, MRXS36, MRXSBA, MSL3L1

NCBI Gene: 10943 ENSG00000005302 UniProt: Q8N5Y2

MSL3 encodes a non-catalytic component of the MSL histone acetyltransferase complex that mediates histone H4 acetylation at lysine-16, maintaining chromosome stability and regulating X-linked gene expression. Mutations cause Basilicata-Akhtar syndrome with X-linked dominant inheritance. The gene is highly constrained against loss-of-function variants (pLI = 1.00, LOEUF = 0.18), indicating that mutations are likely to have significant functional consequences.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBasilicata-Akhtar syndrome

Clinical highlights

Gene-disease validity (ClinGen)

Basilicata-Akhtar syndrome · XLDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.18

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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