GENETIC ENCYCLOPEDIA
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gene: ARTN

id9048
symbolARTN
organismHomo sapiens
full nameartemin
summaryThis gene encodes a secreted ligand of the glial cell line-derived neurotrophic factor (GDNF) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein signals through the RET receptor and GFR alpha 3 coreceptor, and supports the survival of a number of peripheral neuron populations and at least one population of dopaminergic CNS neurons. This protein has also been shown to promote tumor growth, metastasis, and drug resistance in mammary carcinoma. [provided by RefSeq, Aug 2016]
variant-disease

GRCh37/hg19 1p34.2-34.1(chr1:43336799-44713202)x1 AND not provided

GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1 AND See cases

GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3 AND See cases

GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1 AND See cases

GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1 AND See cases

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