FAM50A

This gene belongs to the FAM50 family. The encoded protein is highly conserved in length and sequence across different species. It is a basic protein containing a nuclear localization signal, and may function as a DNA-binding protein or a transcriptional factor. [provided by RefSeq]

family with sequence similarity 50, member A

Probably involved in the regulation of pre-mRNA splicing.

Chromatin organization Source: GO_Central
mRNA processing Source: UniProtKB-KW
Regulation of RNA splicing Source: UniProtKB
RNA splicing Source: UniProtKB-KW
Spermatogenesis Source: UniProtKB

Nucleus

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.