GENETIC ENCYCLOPEDIA
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gene: ISL1

id3670
symbolISL1
organismHomo sapiens
full nameISL LIM homeobox 1
summaryThis 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]
variant-disease

NM_002202.3(ISL1):c.137C>G (p.Ala46Gly) AND Exstrophy-epispadias complex

NM_002202.3(ISL1):c.766-1G>A AND Abnormal heart morphology

NM_002202.3(ISL1):c.479-4G>A AND Exstrophy-epispadias complex

GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3 AND See cases

GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1 AND See cases

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