TPGS2

Chr 18

tubulin polyglutamylase complex subunit 2

Also known as: C18orf10, HMFN0601, L17, PGs2

NCBI Gene: 25941 ENSG00000134779 UniProt: Q68CL5 OMIM: 620710

This protein is a subunit of the tubulin polyglutamylase complex that mediates polyglutamylation of cilia and flagella, which is essential for their biogenesis and motility. Mutations cause spastic paraplegia 57, an autosomal recessive condition characterized by progressive spasticity primarily affecting the lower limbs. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely not tolerated.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein that is a component of the neuronal polyglutamylase complex, which plays a role in post-translational addition of glutamate residues to C-terminal tubulin tails. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.06

LOEUF

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Mechanism