Gene: solute carrier family 39 (zinc transporter), member 4; SLC39A4


Gene Symbol: SLC39A4
OMIM: 607059
Chromosome location: 8q24.3

Related informations:  NCBI Gene  Genome Browser  Ensembl  UniProt  GeneCards  Kyoto Encyclopedia  BioGPS  HGNC  HPRD  

Acrodermatitis enteropathica || c.1223_1227delCCGGG

Phenotype:    Acrodermatitis enteropathica
Dna Change:    c.1223_1227delCCGGG
Protein Change:    p.Trp411ArgfsX7
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 7
Transcript:    NM_130849.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TunisiaNANA6 unrelated familiesNASchmitt S et al., 2009Schmitt S, Küry S, Giraud M, Dréno B, Kharfi M, Bézieau S, . An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.. Hum. Mutat.. 2009; 30(6):926-33

Acrodermatitis enteropathica || c.143T>G

Phenotype:    Acrodermatitis enteropathica
Dna Change:    c.143T>G
Protein Change:    p.Leu48X
Mutation Type:    Substitution
Mutation Effect:    Nonsense
Location:    exon 1
Transcript:    NM_130849.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TunisiaNANA3 unrelated familiesNASchmitt S et al., 2009Schmitt S, Küry S, Giraud M, Dréno B, Kharfi M, Bézieau S, . An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.. Hum. Mutat.. 2009; 30(6):926-33
TunisiaNANA3 patients/ 3 familiesNAKüry S et al., 2003Küry S, Kharfi M, Kamoun R, Taïeb A, Mallet E, Baudon JJ, Glastre C, Michel B, Sebag F, Brooks D, Schuster V, Scoul C, Dréno B, Bézieau S, Moisan JP, . Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica.. Hum. Mutat.. 2003; 22(4):337-8

References

Küry S, Kharfi M, Kamoun R, Taïeb A, Mallet E, Baudon JJ, Glastre C, Michel B, Sebag F, Brooks D, Schuster V, Scoul C, Dréno B, Bézieau S, Moisan JP, Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica.Hum. Mutat.. 2003; 22(4):337-8

Schmitt S, Küry S, Giraud M, Dréno B, Kharfi M, Bézieau S, An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.Hum. Mutat.. 2009; 30(6):926-33