Aliases for CNNM4 Gene
External Ids for CNNM4 Gene
Previous HGNC Symbols for CNNM4 Gene
Previous GeneCards Identifiers for CNNM4 Gene
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 a role in metal ion transport. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [provided by RefSeq, Feb 2010]
GeneCards Summary for CNNM4 Gene
CNNM4 (Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 4) is a Protein Coding gene. Diseases associated with CNNM4 include Jalili Syndrome and Amelogenesis Imperfecta. Gene Ontology (GO) annotations related to this gene include adenyl nucleotide binding. An important paralog of this gene is CNNM2.
UniProtKB/Swiss-Prot Summary for CNNM4 Gene
Probable metal transporter. The interaction with the metal ion chaperone COX11 suggests that it may play a role in sensory neuron functions (By similarity). May play a role in biomineralization and retinal function.