RSPH1


Description

The RSPH1 (radial spoke head component 1) is a protein-coding gene located on chromosome 21.

RSPH1 (Radial spoke head 1 homolog), also known as cancer/testis antigen 79 (CT79) or testis-specific gene A2 protein (TSGA2), is a protein that in humans is encoded by the RSPH1 gene. This protein is a part of axoneme, which forms the core of a cilium or flagellum. Mutations in RSPH1 are associated to Primary ciliary dyskinesia.

RSPH1 plays a crucial role in the movement of sperm and cilia by being a component of the axonemal radial spoke complexes.

RSPH1 is also known as CT79, RSP44, RSPH10A, TSA2, TSGA2.

Associated Diseases


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