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CNNM4 encodes a member of the ancient conserved domain containing protein family.
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Human Polyclonal CNNM4 Primary Antibody for ICC, IF - ABIN4299336
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 2009
Results identified linkage at chromosome 2p14-2q14 and found a homozygous mutation in the CNNM4 gene (p.R605X) causing Jalili syndrome. The truncated CNNM4 protein starting at R605 significantly increased the rate of apoptosis, and significantly increased the interaction between CNNM4 and IQCB1 (show IQCB1 Antibodies). This mutation may cause Jalili syndrome by a nonsense-mediated decay mechanism, affecting the function of IQCB1 (show IQCB1 Antibodies) and apoptosis.
Mutational analysis showed in all three brothers a novel likely pathogenic homozygous missense substitution in exon 1 (c.1076T>C, p.(Leu359Pro)) of CNNM4. Both parents were carriers for the variant.
We describe three siblings with clinical features of Jalili syndrome with a homozygous missense mutation in exon 4 of CNNM4, c.1781A>G (p.N594S).
These results suggest a new role of CNNM4 in sperm Ca(2 (show CA2 Antibodies)+) homeostasis.
We identified a novel homozygous deleterious mutation in CNNM4 gene which causes Jalili syndrome.
used Sanger sequencing to analyze a large consanguineous family with three siblings affected with Jalili syndrome, suspected clinically after dental and ophthalmological examination. These patients are carrying a novel homozygous mutation in the splice site acceptor of intron 3 (c.1682-1G > C) in the CNNM4 gene
these results indicate that CNNM4-dependent Mg(2 (show MUC7 Antibodies)+) efflux suppresses tumor progression by regulating energy metabolism.
The c.1312 dupC mutation of CNNM4 leads to a premature termination of amelogenesis resulting in thin, incompletely mineralized enamel, whereas in dentin, only mineralization is disturbed.
CNNM4 is sorted to the basolateral membrane by the complementary function of AP-1A and AP-1B
Data indicate that a mutation in the cystathionine-beta-synthase (CBS (show CBS Antibodies)) domains of ancient conserved domain protein 4/cyclin M4 CNNM4 completely abrogated their Mg2 (show MUC7 Antibodies)+ efflux functions.
these results indicate that CNNM4-dependent Mg(2 (show MCOLN1 Antibodies)+) efflux suppresses tumor progression by regulating energy metabolism.
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.
, metal transporter CNNM4
, metal transporter CNNM4-like
, ancient conserved domain protein 4
, ancient conserved domain-containing protein 4