BLTP1 Chromosome 4
Bridge-like lipid transfer protein family member 1
Upload your DNA to see your personal genotypes for variants in BLTP1.
What This Gene Does
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]
Gene Info
Gene Group
Bridge-like lipid transfer protein family
Locus Type
gene with protein product
Location
4q27
Ensembl
ENSG00000138688
Associated Conditions (10)
Alkuraya-Kucinskas syndrome
BLTP1-related disorder
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Severe hydrocephalus
Clubfoot
Right aortic arch
Hemivertebrae
Renal agenesis
6 conditions
Key Variants
RS111840903
Conflicting classifications of pathogenicity
Alkuraya-Kucinskas syndrome, BLTP1-related disorder, Alkuraya-Kucinskas syndrome
Health Risk
RS188182890
Conflicting classifications of pathogenicity
Alkuraya-Kucinskas syndrome, BLTP1-related disorder, Alkuraya-Kucinskas syndrome
Health Risk
RS199640893
Conflicting classifications of pathogenicity
Health Risk
RS200028937
Conflicting classifications of pathogenicity
BLTP1-related disorder, BLTP1-related disorder
Health Risk
RS202171900
Conflicting classifications of pathogenicity
Health Risk
RS373369660
Conflicting classifications of pathogenicity
Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
Health Risk
RS75923324
Conflicting classifications of pathogenicity
Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
Health Risk
RS79067453
Conflicting classifications of pathogenicity
Alkuraya-Kucinskas syndrome, BLTP1-related disorder, Alkuraya-Kucinskas syndrome
Health Risk
RS1051597475
Likely pathogenic
Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
Health Risk
RS1186567070
Likely pathogenic
BLTP1-related disorder, BLTP1-related disorder
Health Risk
RS1188013106
Likely pathogenic
Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
Health Risk
RS1200235313
Likely pathogenic
Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
Health Risk
All Variants (48)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111840903 | Health Risk | Conflicting classifications of pathogenicity | Alkuraya-Kucinskas syndrome, BLTP1-related disorder, Alkuraya-Kucinskas syndrome |
| RS188182890 | Health Risk | Conflicting classifications of pathogenicity | Alkuraya-Kucinskas syndrome, BLTP1-related disorder, Alkuraya-Kucinskas syndrome |
| RS199640893 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200028937 | Health Risk | Conflicting classifications of pathogenicity | BLTP1-related disorder, BLTP1-related disorder |
| RS202171900 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373369660 | Health Risk | Conflicting classifications of pathogenicity | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS75923324 | Health Risk | Conflicting classifications of pathogenicity | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS79067453 | Health Risk | Conflicting classifications of pathogenicity | Alkuraya-Kucinskas syndrome, BLTP1-related disorder, Alkuraya-Kucinskas syndrome |
| RS1051597475 | Health Risk | Likely pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS1186567070 | Health Risk | Likely pathogenic | BLTP1-related disorder, BLTP1-related disorder |
| RS1188013106 | Health Risk | Likely pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS1200235313 | Health Risk | Likely pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS1280760946 | Health Risk | Likely pathogenic | BLTP1-related disorder, BLTP1-related disorder |
| RS1397154022 | Health Risk | Likely pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS1460624416 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita |
| RS1460702087 | Health Risk | Likely pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS1579206545 | Health Risk | Likely pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS1741122462 | Health Risk | Likely pathogenic | Severe hydrocephalus, Arthrogryposis multiplex congenita, Clubfoot |
| RS1753117321 | Health Risk | Likely pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS1782343581 | Health Risk | Likely pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS2149077237 | Health Risk | Likely pathogenic | — |
| RS2478075183 | Health Risk | Likely pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS2478086569 | Health Risk | Likely pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS2480758383 | Health Risk | Likely pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS527467559 | Health Risk | Likely pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS758472351 | Health Risk | Likely pathogenic | — |
| RS775292946 | Health Risk | Likely pathogenic | Severe hydrocephalus, Arthrogryposis multiplex congenita, Clubfoot |
| RS777407076 | Health Risk | Likely pathogenic | Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita |
| RS779799402 | Health Risk | Likely pathogenic | BLTP1-related disorder, BLTP1-related disorder |
| RS1245182875 | Health Risk | Pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS1366683564 | Health Risk | Pathogenic | — |
| RS1554025656 | Health Risk | Pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS1554059454 | Health Risk | Pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS1762119351 | Health Risk | Pathogenic | — |
| RS1762121275 | Health Risk | Pathogenic | — |
| RS1771788877 | Health Risk | Pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS1773935759 | Health Risk | Pathogenic | Right aortic arch, Hemivertebrae, Renal agenesis |
| RS1787740370 | Health Risk | Pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS1789635793 | Health Risk | Pathogenic | — |
| RS2148690880 | Health Risk | Pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS2149413101 | Health Risk | Pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS2150047294 | Health Risk | Pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS2479176989 | Health Risk | Pathogenic | — |
| RS2483504427 | Health Risk | Pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS730882245 | Health Risk | Pathogenic | 6 conditions, Alkuraya-Kucinskas syndrome, 6 conditions |
| RS752887801 | Health Risk | Pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS775516790 | Health Risk | Pathogenic | Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome |
| RS886041465 | Health Risk | Pathogenic | — |