RBMX Chromosome X
RNA binding motif protein X-linked
Upload your DNA to see your personal genotypes for variants in RBMX.
What This Gene Does
This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified. A snoRNA gene (SNORD61) is found in one of its introns. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
"RNA binding motif containing|Small nucleolar RNA protein coding host genes|Heterogeneous nuclear ribonucleoproteins"
Locus Type
gene with protein product
Location
Xq26.3
Ensembl
ENSG00000147274
Associated Conditions (4)
Inborn genetic diseases
Severe X-linked intellectual disability
Gustavson type
Syndromic X-linked intellectual disability Shashi type
Key Variants
RS1569439669
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2522767271
Likely pathogenic
Severe X-linked intellectual disability, Gustavson type, Severe X-linked intellectual disability
Health Risk
RS2522753214
Pathogenic
Syndromic X-linked intellectual disability Shashi type, Syndromic X-linked intellectual disability Shashi type
Health Risk
RS2522762140
Pathogenic
Severe X-linked intellectual disability, Gustavson type, Severe X-linked intellectual disability
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1569439669 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2522767271 | Health Risk | Likely pathogenic | Severe X-linked intellectual disability, Gustavson type, Severe X-linked intellectual disability |
| RS2522753214 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Shashi type, Syndromic X-linked intellectual disability Shashi type |
| RS2522762140 | Health Risk | Pathogenic | Severe X-linked intellectual disability, Gustavson type, Severe X-linked intellectual disability |