TOR1AIP1

Chr 1AR

torsin 1A interacting protein 1

Also known as: LAP1, LAP1B, LAP1C, LGMD2Y

NCBI Gene: 26092 ENSG00000143337 UniProt: Q5JTV8 OMIM: 614512

This gene encodes a protein that maintains nuclear membrane integrity by binding A- and B-type lamins and facilitating the proper localization and ATPase activity of TOR1A and TOR1B proteins at the nuclear membrane. Mutations cause autosomal recessive muscular dystrophy characterized by rigid spine and distal joint contractures. The gene shows minimal constraint against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

ARLOEUF 0.911 OMIM phenotype

Clinical Summary— TOR1AIP1

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Gene-Disease Validity (ClinGen)

TOR1AIP1-related multisystem disorder · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

2 total gene-disease associations curated

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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