CFAP91

Phenotypes

Mouse phenotype:

abnormal brain morphology, hydrocephalus, small testis, male infertility, abnormal testis morphology

Ciliopathy associations

• Male Infertility

Subcellular localization

flagella

Functional category

• Ciliary assembly/disassembly

Function

The C-terminal helical domain of CFAP91, one of the base proteins of RS3 (ref. 1), plays a central role in RS3 assembly by serving as a platform onto which many other proteins dock (Supplementary Video 1). This typically occurs through RIIa or DPY30 domains, similar to how RS1/RS2 proteins assemble around RSPH3. However, unlike RSPH3, which is present in two copies leading to the RS1/RS2 heads having pseudo-twofold symmetry, CFAP91 is present in only one copy and thus the RS3 head is asymmetric (Fig. 3)(39743588).