SLC6A18

Chr 5

solute carrier family 6 member 18

Also known as: Xtrp2

NCBI Gene: 348932 ENSG00000164363 UniProt: Q96N87 OMIM: 610300

SLC6A18 encodes a sodium-coupled transporter protein that belongs to the SLC6 family, though it lacks detectable neutral amino acid transporter activity. Mutations cause iminoglycinuria (autosomal recessive), a generally benign condition characterized by excessive urinary excretion of glycine, proline, and hydroxyproline. The gene shows low constraint against loss-of-function variants, consistent with the mild clinical phenotype associated with its dysfunction.

OMIM ResearchSummary from RefSeq, UniProt

The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.47

LOEUF

Multiple*

Mechanism· predicted