rs200396166
This is a variant in the SQSTM1 gene that changes a alanine to an valine.
▶ClinVar annotation
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (FTDALS1); Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Inborn genetic diseases; Paget disease of bone 2, early-onset (PDB2); Paget disease of bone 3; not specified
View on ClinVar →About SQSTM1
This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq, Mar 2009]
View all SQSTM1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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