MSL3 Chromosome X
MSL complex subunit 3
Upload your DNA to see your personal genotypes for variants in MSL3.
What This Gene Does
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]
Gene Info
Gene Group
MSL histone acetyltransferase complex
Locus Type
gene with protein product
Location
Xp22.2
Ensembl
ENSG00000005302
Associated Conditions (13)
Basilicata-Akhtar syndrome
Intellectual disability
Nonpapillary renal cell carcinoma
Inborn genetic diseases
Global developmental delay
Neurodevelopmental abnormality
Ovarian serous cystadenocarcinoma
X-linked neurodevelopmental delay
dysmorphism
and progressive neurological disorder
Thyroid cancer
nonmedullary
1
Key Variants
RS1555906707
Likely pathogenic
Basilicata-Akhtar syndrome, Intellectual disability, Basilicata-Akhtar syndrome
Health Risk
RS1555906781
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS1555907623
Likely pathogenic
Intellectual disability, Basilicata-Akhtar syndrome, Intellectual disability
Health Risk
RS1555907626
Likely pathogenic
Basilicata-Akhtar syndrome, Intellectual disability, Basilicata-Akhtar syndrome
Health Risk
RS1555907653
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS1555907864
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS2053172723
Likely pathogenic
Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome
Health Risk
RS2147245787
Likely pathogenic
Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome
Health Risk
RS2518423160
Likely pathogenic
Basilicata-Akhtar syndrome, Nonpapillary renal cell carcinoma, Basilicata-Akhtar syndrome
Health Risk
RS1555907215
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1601769604
Pathogenic
Global developmental delay, Basilicata-Akhtar syndrome, Global developmental delay
Health Risk
RS1601769873
Pathogenic
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555906707 | Health Risk | Likely pathogenic | Basilicata-Akhtar syndrome, Intellectual disability, Basilicata-Akhtar syndrome |
| RS1555906781 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1555907623 | Health Risk | Likely pathogenic | Intellectual disability, Basilicata-Akhtar syndrome, Intellectual disability |
| RS1555907626 | Health Risk | Likely pathogenic | Basilicata-Akhtar syndrome, Intellectual disability, Basilicata-Akhtar syndrome |
| RS1555907653 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1555907864 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2053172723 | Health Risk | Likely pathogenic | Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome |
| RS2147245787 | Health Risk | Likely pathogenic | Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome |
| RS2518423160 | Health Risk | Likely pathogenic | Basilicata-Akhtar syndrome, Nonpapillary renal cell carcinoma, Basilicata-Akhtar syndrome |
| RS1555907215 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1601769604 | Health Risk | Pathogenic | Global developmental delay, Basilicata-Akhtar syndrome, Global developmental delay |
| RS1601769873 | Health Risk | Pathogenic | — |
| RS2053146273 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2053175099 | Health Risk | Pathogenic | Inborn genetic diseases, Basilicata-Akhtar syndrome, Inborn genetic diseases |
| RS2053176048 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Ovarian serous cystadenocarcinoma, Neurodevelopmental abnormality |
| RS2053238794 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2147244798 | Health Risk | Pathogenic | Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome |
| RS2147244828 | Health Risk | Pathogenic | Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome |
| RS2147247578 | Health Risk | Pathogenic | X-linked neurodevelopmental delay, dysmorphism, and progressive neurological disorder |
| RS2147250167 | Health Risk | Pathogenic | Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome |
| RS2518420699 | Health Risk | Pathogenic | Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome |
| RS2518426396 | Health Risk | Pathogenic | Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome |
| RS2518435267 | Health Risk | Pathogenic | Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome |
| RS746387441 | Health Risk | Pathogenic | Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome |
| RS768515139 | Health Risk | Pathogenic | — |
| RS1555906768 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Basilicata-Akhtar syndrome, Intellectual disability |
| RS1555907620 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Basilicata-Akhtar syndrome, Intellectual disability |
| RS1601774648 | Health Risk | Pathogenic/Likely pathogenic | Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome |