MYD88 MYD88 innate immune signal transduction adaptor

Gene ID: 4615, updated on 11-Apr-2024
Gene type: protein coding
Also known as: WM1; IMD68; MYD88D

Summary

This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and Toll-like receptor signaling pathways. These pathways regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-terminal Toll-interleukin1 receptor domain. Patients with defects in this gene have an increased susceptibility to pyogenic bacterial infections. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Macroglobulinemia, Waldenstrom, 1 MedGen: C1835192OMIM: 153600GeneReviews: Not available	See labs
Pyogenic bacterial infections due to MyD88 deficiency MedGen: C2677092OMIM: 612260GeneReviews: Not available	See labs

Genomic context

Location:: 3p22.2

Sequence:: Chromosome: 3; NC_000003.12 (38138661..38143022)

Total number of exons:: 5

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for MYD88 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
MYD88 database
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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