CNNM4 gene

cyclin and CBS domain divalent metal cation transport mediator 4

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Cone-rod dystrophy amelogenesis imperfecta

From UniProt:

Jalili syndrome (JALIS): A syndrome characterized by the association of cone-rod dystrophy and amelogenesis imperfecta. [MIM:217080]

Cytogenetic Location: 2q11, which is the long (q) arm of chromosome 2 at position 11

Molecular Location: base pairs 96,760,902 to 96,811,891 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q11, which is the long (q) arm of chromosome 2 at position 11