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].
Parry, Mighell, El-Sayed, Shore, Jalili, Dollfus, Bloch-Zupan, Carlos, Carr, Downey, Blain, Mansfield, Shahrabi, Heidari, Aref, Abbasi, Michaelides, Moore, Kirkham, Inglehearn: "Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta." in: American journal of human genetics, Vol. 84, Issue 2, pp. 266-73, (2009) (PubMed).
Aliases for CNNM4 抗体
cyclin and CBS domain divalent metal cation transport mediator 4 (CNNM4) 抗体 cyclin M4 (CpipJ_CPIJ006743) 抗体 cyclin and CBS domain divalent metal cation transport mediator 4 (cnnm4) 抗体 cyclin M4 (CNNM4) 抗体 cyclin M4 (Cnnm4) 抗体 cyclin and CBS domain divalent metal cation transport mediator 4 (Cnnm4) 抗体 5430430O18Rik 抗体 ACDP4 抗体 Acdp4 抗体 DKFZp468E0110 抗体