BLTP1

Chr 4AR

bridge-like lipid transfer protein family member 1

Also known as: ALKKUCS, FSA, KIAA1109, Tweek

NCBI Gene: 84162 ENSG00000138688 UniProt: Q2LD37 OMIM: 611565

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Alkuraya-Kucinskas syndromeMIM #617822

Clinical highlights

Gene-disease validity (ClinGen)

Alkuraya-Kucinskas syndrome · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.41

LOEUF

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Mechanism