FAM50A
Function
Probably involved in the regulation of pre-mRNA splicing.
Involvement in disease
Intellectual developmental disorder, X-linked, syndromic, Armfield type
MRXSA
An X-linked recessive disorder characterized by global developmental delay with impaired intellectual development, walking difficulties and poor or absent speech. Affected individuals display a distinctive phenotype characterized by postnatal growth retardation, variable head circumference with a prominent forehead and dysmorphic facial features, ocular abnormalities, and seizures.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the FAM50 family.
Tissue Specificity
Widely expressed in fetal and adult tissues. Mostly abundant in fetal brain, liver and kidney; in the adult, high levels were also observed in heart, skeletal muscle, spleen, thymus, prostate and small intestine. Expressed in fetal cerebellum and hypothalamus. Low expression is observed in fetal temporal lobe (PubMed:32703943).
Cellular localization
- Nucleus
Alternative names
DXS9928E, HXC26, XAP5, FAM50A, Protein FAM50A, Protein HXC-26, Protein XAP-5