Aliases for SLC44A4 Gene
External Ids for SLC44A4 Gene
Previous HGNC Symbols for SLC44A4 Gene
Previous GeneCards Identifiers for SLC44A4 Gene
The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
GeneCards Summary for SLC44A4 Gene
SLC44A4 (Solute Carrier Family 44 Member 4) is a Protein Coding gene. Diseases associated with SLC44A4 include Deafness, Autosomal Dominant 72 and Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Metabolism. An important paralog of this gene is SLC44A2.
UniProtKB/Swiss-Prot for SLC44A4 Gene
Choline transporter that plays a role in the choline-acetylcholine system and is required to the efferent innervation of hair cells in the olivocochlear bundle for the maintenance of physiological function of outer hair cells and the protection of hair cells from acoustic injury (By similarity) (PubMed:23651124, PubMed:28013291). Also described as a thiamine pyrophosphate transporter in colon, may mediate the absorption of microbiota-generated thiamine pyrophosphate and contribute to host thiamine (vitamin B1) homeostasis (PubMed:24379411).
Isoform 3: Has also thiamine pyrophosphate transporter activity.