BLTP1
Chr 4ARbridge-like lipid transfer protein family member 1
Also known as: ALKKUCS, FSA, KIAA1109, Tweek
The encoded protein functions as a bridge-like lipid transfer protein that transports phospholipids between the endoplasmic reticulum and target membranes, and is involved in endosomal trafficking, actin cytoskeleton dynamics, and cilia structure. Biallelic mutations cause Alkuraya-Kucinskas syndrome, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (LOEUF 0.41), indicating intolerance to protein-disrupting mutations.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Extremely missense-constrained (top ~0.01%)
ClinVar Variant Classifications
200 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 0 | 1 | 0 | 2 |
Likely Pathogenic | 1 | 0 | 1 | 0 | 2 |
VUS | 0 | 113 | 2 | 0 | 115 |
Likely Benign | 0 | 5 | 1 | 0 | 6 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 2 | 118 | 5 | 0 | 125 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
BLTP1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools