| UniProt Protein Function: | CNNM4: Probable metal transporter. The interaction with the metal ion chaperone COX11 suggests that it may play a role in sensory neuron functions. May play a role in biomineralization and retinal function. Defects in CNNM4 are the cause of Jalili syndrome (JALIS). A syndrome characterized by the association of cone- rod dystrophy and amelogenesis imperfecta. Belongs to the ACDP family. |
| UniProt Protein Details: | Protein type:Membrane protein, integral; Cell cycle regulation; Membrane protein, multi-pass Chromosomal Location of Human Ortholog: 2q11 Disease: Jalili Syndrome |
| NCBI 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 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] |
| UniProt Code: | Q6P4Q7 |
| NCBI GenInfo Identifier: | 224471892 |
| NCBI Gene ID: | 26504 |
| NCBI Accession: | Q6P4Q7.3 |
| UniProt Secondary Accession: | Q6P4Q7,Q53RE5, Q9H9G3, Q9HCI0, Q9NRN1, B7Z1U0, C7SQM3 C7SQM4, C7SQM5, |
| UniProt Related Accession: | Q6P4Q7 |
| Molecular Weight: | 29,485 Da |
| NCBI Full Name: | Metal transporter CNNM4 |
| NCBI Synonym Full Names: | cyclin and CBS domain divalent metal cation transport mediator 4 |
| NCBI Official Symbol: | CNNM4 |
| NCBI Official Synonym Symbols: | ACDP4 |
| NCBI Protein Information: | metal transporter CNNM4 |
| UniProt Protein Name: | Metal transporter CNNM4 |
| UniProt Synonym Protein Names: | Ancient conserved domain-containing protein 4; Cyclin-M4 |
| Protein Family: | Metal transporter |
| UniProt Gene Name: | CNNM4 |
| UniProt Entry Name: | CNNM4_HUMAN |