BTN1A1 butyrophilin subfamily 1 member A1
Gene ID: 696, updated on 3-Nov-2024Gene type: protein coding
Also known as: BT; BTN; BTN1
- See all available tests in GTR for this gene
- Go to complete Gene record for BTN1A1
- Go to Variation Viewer for BTN1A1 variants
Summary
Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. GeneReviews: Not available | |
| GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. GeneReviews: Not available | |
| Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. GeneReviews: Not available |
Genomic context
- Location:
- 6p22.2
- Sequence:
- Chromosome: 6; NC_000006.12 (26500303..26510425)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BTN1A1 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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