SRTD21
Chr 17ARKIAA0753
Also known as: JBTS38, MNR, OFIP, SRTD21
The protein encoded by this gene is a subunit of a protein complex that regulates ciliogenesis and cilia maintenance, and also regulates centriolar duplication. Mutations cause short-rib thoracic dysplasia 21 without polydactyly, with inheritance following an autosomal recessive pattern. This ciliopathy primarily affects skeletal development, particularly the thoracic cage and ribs.
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SRTD21?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SRTD21 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools