Gene Symbol | CNNM2 |
Entrez Gene ID | 54805 |
Full Name | cyclin and CBS domain divalent metal cation transport mediator 2 |
Synonyms | ACDP2,HOMG6,HOMGSMR |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. |
Disorder MIM: | |
Disorder Html: | Hypomagnesemia 6, renal, 613882 (3); Hypomagnesemia, seizures, and mental retardation, 616418 (3) |