| Gene Symbol | SLC44A4 |
| Entrez Gene ID | 80736 |
| Full Name | solute carrier family 44 member 4 |
| Synonyms | C6orf29,CTL4,DFNA72,NG22,TPPT,hTPPT1 |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | ?Deafness, autosomal dominant 72, 617606 (3) |
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