TOR1AIP1

Chr 1

torsin 1A interacting protein 1

Also known as: LAP1, LAP1B, LAP1C, LGMD2Y

NCBI Gene: 26092ENSG00000143337UniProt: Q5JTV8

This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMyopathy, autosomal recessive, with rigid spine and distal joint contractures

Clinical highlights

Gene-disease validity (ClinGen)
TOR1AIP1-related multisystem disorder · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.91
LOEUF
—
Mechanism
📖
GeneReview available — TOR1AIP1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.91LOEUF
pLI 0.000
Z-score 1.96
OE 0.62 (0.43–0.91)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.88Z-score
OE missense 1.14 (1.05–1.25)
349 obs / 305.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.62 (0.43–0.91)
0≤0.351.4
Missense OE?1.14 (1.05–1.25)
0≤0.61.4
Synonymous OE?1.15
0≤1.21.6
LoF obs/exp: 19 / 30.7Missense obs/exp: 349 / 305.6Syn Z: -1.28

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TOR1AIP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients