CNNM4
Function
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.
Involvement in disease
Jalili syndrome
JALIS
A syndrome characterized by the association of cone-rod dystrophy and amelogenesis imperfecta.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ACDP family.
Tissue Specificity
Widely expressed. Highly expressed in heart.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
Alternative names
ACDP4, KIAA1592, CNNM4, Metal transporter CNNM4, Ancient conserved domain-containing protein 4, Cyclin-M4