Entity Details

Primary name FAM50A
Entity type gene
Source Source Link

Details

PrimaryID9130
RefseqGeneNG_013233
SymbolFAM50A
Namefamily with sequence similarity 50 member A
ChromosomeX
LocationXq28
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-09-29
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsFA50A_HUMAN

GO terms

Show/Hide Table
GOName
GO:0003723 RNA binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006325 chromatin organization
GO:0007283 spermatogenesis

Diseases

Show/Hide Table
Disease IDSourceNameDescription
300261 OMIMIntellectual 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. The disease is caused by variants affecting the gene represented in this entry.