Description: Homo sapiens ADAM metallopeptidase domain 17 (ADAM17), mRNA. RefSeq Summary (NM_003183): This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. The encoded protease functions in the ectodomain shedding of tumor necrosis factor-alpha, in which soluble tumor necrosis factor-alpha is released from the membrane-bound precursor. This protease also functions in the processing of numerous other substrates, including cell adhesion proteins, cytokine and growth factor receptors and epidermal growth factor (EGF) receptor ligands. The encoded protein also plays a prominent role in the activation of the Notch signaling pathway. Elevated expression of this gene has been observed in specific cell types derived from psoriasis, rheumatoid arthritis, multiple sclerosis and Crohn's disease patients, suggesting that the encoded protein may play a role in autoimmune disease. [provided by RefSeq, Feb 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Transcript (Including UTRs) Position: hg19 chr2:9,661,725-9,663,477 Size: 1,753 Total Exon Count: 2 Strand: -
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): ADAM17 CDC HuGE Published Literature: ADAM17 Positive Disease Associations: Heart Rate Related Studies:
Heart Rate Tuomo Rankinen et al. Journal of applied physiology (Bethesda, Md. : 1985) 2012, Heritability of submaximal exercise heart rate response to exercise training is accounted for by nine SNPs., Journal of applied physiology (Bethesda, Md. : 1985).
[PubMed 22174390]
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.