Gene Symbol | SLC39A13 |
Entrez Gene ID | 91252 |
Full Name | solute carrier family 39 member 13 |
Synonyms | LZT-Hs9,SCDEDS,ZIP13 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome. Alternate transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]. |
Disorder MIM: | |
Disorder Html: | Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350 (3) |