Gene Symbol | LEMD2 |
Entrez Gene ID | 221496 |
Full Name | LEM domain containing 2 |
Synonyms | CTRCT42,NET25,dJ482C21.1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differentiation. Mutations in this gene result in Cataract 46, juvenile-onset. Multiple transcript variants have been found for this gene. [provided by RefSeq, Feb 2017]. |
Disorder MIM: | |
Disorder Html: | Cataract 46, juvenile-onset, 212500 (3) |