SLC4A10
Domain
The N-terminal cytoplasmic domain is likely to have a high level of intrinsic disorder.
Function
Sodium/bicarbonate cotransporter which plays an important role in regulating intracellular pH (PubMed:18319254). Has been shown to act as a sodium/bicarbonate cotransporter in exchange for intracellular chloride (By similarity). Has also been shown to act as a sodium/biocarbonate cotransporter which does not couple net influx of bicarbonate to net efflux of chloride, with the observed chloride efflux being due to chloride self-exchange (PubMed:18319254). Controls neuronal pH and may contribute to the secretion of cerebrospinal fluid (By similarity). Acting on presynaptic intracellular pH, it promotes GABA release, reduces the excitability of CA1 pyramidal neurons, and modulates short-term synaptic plasticity (By similarity). Required in retinal cells to maintain normal pH which is necessary for normal vision (By similarity). In the kidney, likely to mediate bicarbonate reclamation in the apical membrane of the proximal tubules (By similarity).
Involvement in disease
Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
NEDHBA
An autosomal recessive disorder characterized by hypotonia in infancy, delayed psychomotor development and intellectual impairment. Affected individuals commonly display traits associated with autistic spectrum disorder including anxiety, hyperactivity and stereotyped movements. Episodes of seizures in the first few years of life may occur. Brain imaging shows abnormalities of the lateral ventricles.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the anion exchanger (TC 2.A.31) family.
Tissue Specificity
Predominantly expressed in the brain.
Cellular localization
- Basolateral cell membrane
- Multi-pass membrane protein
- Apical cell membrane
- Multi-pass membrane protein
- Cell projection
- Dendrite
- Cell projection
- Axon
- Perikaryon
- Presynapse
- Postsynapse
- Detected in dendrites and axon terminals of retinal OFF bipolar cells and in axon terminals of ON bipolar cells (By similarity). In amacrine cells, located in the perikaryon (By similarity). Also detected in basal and apical dendrites of hippocampal pyramidal cells (By similarity). Localized to GABAergic inhibitory presynapses (By similarity).
Alternative names
NBCN2, NCBE, SLC4A10, Sodium-driven chloride bicarbonate exchanger, Solute carrier family 4 member 10