BLTP1 bridge-like lipid transfer protein family member 1
Gene ID: 84162, updated on 3-Apr-2024Gene type: protein coding
Also known as: FSA; Tweek; ALKKUCS; KIAA1109
- See all available tests in GTR for this gene
- Go to complete Gene record for BLTP1
- Go to Variation Viewer for BLTP1 variants
Summary
This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. GeneReviews: Not available | |
| Alkuraya-Kucinskas syndrome | See labs |
| Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. GeneReviews: Not available | |
| Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. GeneReviews: Not available | |
| Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. GeneReviews: Not available | |
| Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. GeneReviews: Not available | |
| Multiple common variants for celiac disease influencing immune gene expression. GeneReviews: Not available | |
| Newly identified genetic risk variants for celiac disease related to the immune response. GeneReviews: Not available |
Genomic context
- Location:
- 4q27
- Sequence:
- Chromosome: 4; NC_000004.12 (122152331..122362752)
- Total number of exons:
- 96
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BLTP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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