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 |
|
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) |