Recombinant Human Metal transporter CNNM4 (CNNM4), partial

1. Jalili Syndrome is a rare cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI), We have further characterized its ocular phenotype, including describing SD-OCT, FAF, and electrophysiological features; and report several novel disease-causing sequence variants. PMID: 29421294
2. Here, we report the 2 first families with Jalili Syndrome in Brazil. Molecular analysis of the first family identified a previously described homozygous mutation (p.Leu324Pro) in exon 1 of CNNM4 gene. In the second family, affected patients demonstrated a compound heterozygous mutation in CNNM4, the p.Leu324Pro and the novel nonsense mutation p.Tyr581*. PMID: 29421602
3. 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. This mutation may cause Jalili syndrome by a nonsense-mediated decay mechanism, affecting the function of IQCB1 and apoptosis. PMID: 29322253
4. 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. PMID: 28586144
5. 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). PMID: 27070327
6. These results suggest a new role of CNNM4 in sperm Ca(2+) homeostasis. PMID: 27006114
7. We identified a novel homozygous deleterious mutation in CNNM4 gene which causes Jalili syndrome. PMID: 27419834
8. 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 PMID: 28246031
9. these results indicate that CNNM4-dependent Mg(2+) efflux suppresses tumor progression by regulating energy metabolism. PMID: 25347473
10. 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. PMID: 24194943
11. CNNM4 is sorted to the basolateral membrane by the complementary function of AP-1A and AP-1B PMID: 25449265
12. Data indicate that a mutation in the cystathionine-beta-synthase (CBS) domains of ancient conserved domain protein 4/cyclin M4 CNNM4 completely abrogated their Mg2+ efflux functions. PMID: 24706765
13. These results demonstrate the crucial importance of Mg(2+) extrusion by CNNM4 in organismal and topical regulation of magnesium. PMID: 24339795
14. Our case shows a unique combination of NF1 and Jalili syndrome; clinical examination, but also of molecular genetic analysis, which together provide a precise diagnosis. PMID: 21728811
15. This work describes the purification and preliminary crystallographic analysis of the CBS-pair regulatory domain of the human ancient domain protein 4 (ACDP4), also known as CNNM4. PMID: 21393841
16. Identification of CNNM4 as the causative gene for Jalili syndrome, characterized by autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. PMID: 19200525
17. Since CNNM4 is implicated in metal ion transport, cone-rod dystrophy and amelogenesis imperfecta may originate from abnormal ion homeostasis. PMID: 19200527

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HGNC: 105

OMIM: 217080

KEGG: hsa:26504

STRING: 9606.ENSP00000366275

UniGene: Hs.175043