CLPTM1L

Chr 5

CLPTM1 like

Also known as: CRR9

NCBI Gene: 81037 ENSG00000049656 UniProt: Q96KA5 OMIM: 612585

This scramblase mediates the translocation of glucosaminylphosphatidylinositol across the endoplasmic reticulum membrane, participating in the biosynthesis of glycosylphosphatidylinositol (GPI) used for post-translational protein modification. Mutations cause autosomal recessive developmental disorders affecting multiple organ systems. The gene is highly constrained against loss-of-function variants (LOEUF 0.645), indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a membrane protein whose overexpression in cisplatin-sensitive cells causes apoptosis. Polymorphisms in this gene have been reported to increase susceptibility to several cancers, including lung, pancreatic, and breast cancers. [provided by RefSeq, Nov 2015]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.65

LOEUF

Mechanism· predicted