NSMAF neutral sphingomyelinase activation associated factor
Gene ID: 8439, updated on 3-Apr-2024Gene type: protein coding
Also known as: FAN; GRAMD5
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- Go to complete Gene record for NSMAF
- Go to Variation Viewer for NSMAF variants
Summary
This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation of neutral sphingomyelinase and may play a role in regulating TNF-induced cellular responses such as inflammation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]
Associated conditions
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Description | Tests |
---|---|
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available |
Genomic context
- Location:
- 8q12.1
- Sequence:
- Chromosome: 8; NC_000008.11 (58583504..58659853, complement)
- Total number of exons:
- 39
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for NSMAF variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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