rs780007452
This variant is located in the ISL1 gene.
▶ClinVar annotation
About ISL1
This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protein is central to the development of pancreatic cell lineages and may also be required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of the young. [provided by RefSeq, Jul 2008]
View all ISL1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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