LRGUK

leucine rich repeats and guanylate kinase domain containing

Ensembl:: ENSG00000155530
UniProt:: Q96M69
OMIM:: 616478
Synonyms:: CFAP246, FLJ32786

Cilia effects upon perturbation of LRGUK

Ciliogenesis screen results (2 screens)

Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=518, lfc=-0.75) PMID:30270045

Subcellular localization

basal body, nucleus

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
Reproduction & sperm

Function

Leucine-rich repeats and guanylate ki se domain contain (LRGUK ) isoform 1 (LRGUK-1) has a critical role in both sperm head shaping and basal body attachment to the plasma membrane, and in the early aspects of axoneme development. LRGUK-1 dysfunction leads to abnormal manchette formation and movement, and an absence of axoneme extension from the basal body(25781171).

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