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TMEM5 encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms.
Gene Name: | transmembrane protein 5 |
Synonyms: | TMEM5, HP10481, Transmembrane protein 5 |
Target Sequences: | NM_014254 NP_055069.1 Q9Y2B1 |
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