FXYD4

Chr 10

FXYD domain containing ion transport regulator 4

Also known as: CHIF

NCBI Gene: 53828 ENSG00000150201 UniProt: P59646

The protein regulates sodium/potassium-transporting ATPase activity by increasing the transporter's affinity for sodium and enhancing its function. Mutations in this gene cause autosomal recessive intellectual disability with seizures and hypotonia. The gene shows low constraint to loss-of-function variation, consistent with a recessive inheritance pattern where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. FXYD4, originally named CHIF for channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. Alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, May 2010]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.49

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)