SLC30A5
Homo sapiens
Gene Name: solute carrier family 30
Aliases: ZNT5, ZTL1, ZNTL1, ZnT-5
Chromosome No: 5
Chromosome Band: 5q13.1-q13.2
Genetic Category: Rare Single Gene variant
Aliases: ZNT5, ZTL1, ZNTL1, ZnT-5
Chromosome No: 5
Chromosome Band: 5q13.1-q13.2
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 3
Evidence score: 2
ASD Reports: 5
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 3
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the SLC30A5 gene have been identified with autism (O'Roak et al., 2011; Sanders et al., 2012).
Molecular Function
Functions as a zinc transporter in lumens of the golgi apparatus and vesicular compartments where ALPs locate.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
ASD
Highly Cited
Splice variants of the human zinc transporter ZnT5 (SLC30A5) are differentially localized and regulated by zinc through transcription and mRNA stab...
Recent Recommendation
Zinc transporter Znt5/Slc30a5 is required for the mast cell-mediated delayed-type allergic reaction but not the immediate-type reaction.
