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 Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis. GO annotations related to this gene include adenyl nucleotide binding. An important paralog of this gene is CNNM2.
UniProtKB/Swiss-Prot 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.