Gene Symbol | ANKLE2 |
Entrez Gene ID | 23141 |
Full Name | ankyrin repeat and LEM domain containing 2 |
Synonyms | KIAA0692,LEMD7,Lem4,MCPH16 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]. |
Disorder MIM: | |
Disorder Html: | ?Microcephaly 16, primary, autosomal recessive, 616681 (3) |