SLC22A23

Chr 6

solute carrier family 22 member 23

Also known as: C6orf85

NCBI Gene: 63027 ENSG00000137266 UniProt: A1A5C7

The protein functions as a transmembrane transporter that moves organic ions across cell membranes through uniporter, symporter, and antiporter mechanisms. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly and simplified gyral pattern, typically presenting in early infancy with severe intellectual disability and refractory seizures. This gene is highly constrained against loss-of-function variants, suggesting that complete loss of protein function is likely pathogenic.

ResearchSummary from RefSeq

SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

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)

—

P/LP submissions

—

P/LP missense

0.38

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)

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