RSPH3

The protein encoded by this gene acts as a protein kinase A anchoring protein. Mutations in this gene cause primary ciliary dyskinesia; a disorder characterized by defects of the axoneme in motile cilia and sperm flagella. The homolog of this gene was first identified in the blue-green algae Chlamydomonas as encoding a radial spoke protein that formed a structural component of motile cilia and flagella. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]

Description

radial spoke head 3

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

6:q25.3 (158972871 - 159000202)

Ensembl ID

ENSG00000130363  (ver. 99.38)

Orthologs

-

UniProt

Q86UC2

neXtProt

NX_Q86UC2

Human splice variants