DRC7

dynein regulatory complex subunit 7

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000159625
UniProt:: Q8IY82
OMIM:: 618769
Synonyms:: C16ORF50, CCDC135, CFAP50, DKFZP434I099, FAP50

Ciliogenesis screen results (1 screens)

Breslow et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, casTLE effect=1.75) PMID:29459680

Phenotypes

Mouse phenotype:: abnormal sinus arrhythmia, decreased grip strength, increased circulating alkaline phosphatase level, abnormal coat/hair pigmentation

Subcellular localization

basal body, cilia

References: PMID:31659045, PMID:31961863

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
Reproduction & sperm
Cell migration & adhesion

Function

Central linker subunit that helps connect the N-DRC to the outer dynein arms. Loss of DRC7 causes defects in sperm storage and fertility (31659045). Essential for the correct assembly of the N-DRC and flagella, stability of the N-DRC is essential for proper axoneme elongation. DRC7 is essential to localize DRC5 in the correct place, and that DRC5 regulates flagellar motility (31961863)

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