RSPH1

Chr 21

radial spoke head component 1

Also known as: CT79, RSP44, RSPH10A, TSA2, TSGA2

NCBI Gene: 89765 ENSG00000160188 UniProt: Q8WYR4

This gene encodes a protein that functions as part of axonemal radial spoke complexes essential for sperm and ciliary motility. Mutations cause primary ciliary dyskinesia-24, inherited in an autosomal recessive pattern. The gene is expressed in tissues with motile cilia or flagella including the respiratory tract and testes.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCiliary dyskinesia, primary, 24

Clinical highlights

Gene-disease validity (ClinGen)

primary ciliary dyskinesia 24 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.98

LOEUF

LOF

Mechanism· G2P

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GeneReview available — RSPH1