FAM50A

Chr X

family with sequence similarity 50 member A

Also known as: 9F, DXS9928E, HXC-26, HXC26, MRXSA, XAP5

NCBI Gene: 9130 ENSG00000071859 UniProt: Q14320

The protein is involved in regulation of pre-mRNA splicing and likely functions as a DNA-binding protein or transcriptional factor. Mutations cause X-linked syndromic intellectual developmental disorder (Armfield type) through an X-linked recessive inheritance pattern. The high constraint scores (pLI 0.98, LOEUF 0.29) indicate the gene is highly intolerant to loss-of-function variants, suggesting pathogenicity occurs predominantly through haploinsufficiency.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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, Sep 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, X-linked, syndromic, Armfield type

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.29

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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