SLC5A11

Chr 16

solute carrier family 5 member 11

Also known as: KST1, RKST1, SGLT6, SMIT2

NCBI Gene: 115584 ENSG00000158865 UniProt: Q8WWX8 OMIM: 610238

The SLC5A11 protein functions as a sodium-dependent cotransporter that transports myo-inositol and other molecules across cell membranes, particularly in intestinal absorption and renal reabsorption. Mutations in SLC5A11 cause autism spectrum disorder with epilepsy and arthrogryposis, typically presenting in early childhood with developmental delays, seizures, and joint contractures. This gene follows autosomal recessive inheritance and shows tolerance to loss-of-function variants (LOEUF 1.067), affecting primarily neurological and musculoskeletal systems.

OMIM ResearchSummary from RefSeq, UniProt

Cotransporters, such as SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed 12039040].[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.07

LOEUF

Multiple*

Mechanism· predicted