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CNNM4 encodes a member of the ancient conserved domain containing protein family. Zusätzlich bieten wir Ihnen CNNM4 Proteine (7) und viele weitere Produktgruppen zu diesem Protein an.
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Human Polyclonal CNNM4 Primary Antibody für 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
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 (zeige CA2 Antikörper)+) 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 (zeige MUC7 Antikörper)+) 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 (zeige CBS Antikörper)) domains of ancient conserved domain protein 4/cyclin M4 CNNM4 completely abrogated their Mg2 (zeige MUC7 Antikörper)+ efflux functions.
These results demonstrate the crucial importance of Mg(2 (zeige MUC7 Antikörper)+) extrusion by CNNM4 in organismal and topical regulation of magnesium.
these results indicate that CNNM4-dependent Mg(2 (zeige MCOLN1 Antikörper)+) 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