NP_064569.3
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
metal transporter CNNM4
NCBI Official Synonym Full Names
cyclin and CBS domain divalent metal cation transport mediator 4
NCBI Official Synonym Symbols
NCBI Protein Information
metal transporter CNNM4
UniProt Protein Name
Metal transporter CNNM4
UniProt Synonym Protein Names
Ancient conserved domain-containing protein 4; Cyclin-M4
UniProt Synonym Gene Names
UniProt Entry Name
CNNM4_HUMAN
NCBI Summary for CNNM4
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 Comments for CNNM4
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.
Protein type: Cell cycle regulation; Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 2q11
Cellular Component: integral to membrane; plasma membrane
Biological Process: visual perception; biomineral formation; response to stimulus; ion transport
Disease: Jalili Syndrome
Product References and Citations for anti-CNNM4 antibody
Polok, B., et al. Am. J. Hum. Genet. 84(2):259-265(2009) Parry, D.A., et al. Am. J. Hum. Genet. 84(2):266-273(2009) Guo, D., et al. Mol Pain 1, 15 (2005) : Michaelides, M., et al. J. Med. Genet. 41(6):468-473(2004) Wang, C.Y., et al. Gene 306, 37-44 (2003) : Downey, L.M., et al. Eur. J. Hum. Genet. 10(12):865-869(2002) Jalili, I.K., et al. J. Med. Genet. 25(11):738-740(1988)
Research Articles on CNNM4
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Products associated with anti-CNNM4 antibody
Diseases associated with anti-CNNM4 antibody
Organs/Tissues associated with anti-CNNM4 antibody
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