Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The carboxyl-terminal region of SDCCAG8 comprises a functional module essential for cilia formation as well as organ development and homeostasis.

The Journal of biological chemistry - 1 Mar 2022

Tsutsumi Ryotaro, Chaya Taro, Tsujii Toshinori, Furukawa Takahisa

Abstract excerpt

In humans, ciliary dysfunction causes ciliopathies, which present as multiple organ defects, including developmental and sensory abnormalities. Sdccag8 is a centrosomal/basal body protein essential for proper cilia formation. Gene mutations in SDCCAG8 have been found in patients with ciliopathies manifesting a broad spectrum of symptoms, including hypogonadism. Among these mutations, several that are predicted to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autoantigens
Share to Cilia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Ciliopathies

Share to Homeostasis

Share to Kidney Diseases, Cystic

Share to Mammals

Share to Neoplasm Proteins

Share to Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 35131266
DOI: 10.1016/j.jbc.2022.101686
PMCID: PMC8902618

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The carboxyl-terminal region of SDCCAG8 comprises a functional module essential for cilia formation as well as organ development and homeostasis.PMID 35131266Read ↗

Joubert syndrome causing mutation in C2 domain of CC2D2A affects structural integrity of cilia and cellular signaling molecules.Semantic proximity Read ↗

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease.Semantic proximity Read ↗

A complex of distal appendage-associated kinases linked to human disease regulates ciliary trafficking and stabilitySemantic proximity Read ↗

Altered gene regulation as a candidate mechanism by which ciliopathy gene SDCCAG8 contributes to schizophrenia and cognitive function.Semantic proximity Read ↗

Ccrk-Mak/Ick kinase signaling axis is a ciliary transport regulator essential for retinal photoreceptor maintenanceSemantic proximity Read ↗

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.Semantic proximity Read ↗

Qilin is essential for cilia assembly and normal kidney development in zebrafish.Semantic proximity Read ↗

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.Semantic proximity Read ↗

CCDC28A deficiency causes head-tail coupling defects and immotility in murine spermatozoaSemantic proximity Read ↗

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.Semantic proximity Read ↗

Cystin Localizes to Primary Cilia via Membrane Microdomains and a Targeting MotifSemantic proximity Read ↗

Multiple Ciliary Localization Signals Control INPP5E Ciliary TargetingSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.