CCDC34
Function
Involved in spermatogenesis. Has a probable role in anterograde intraflagellar transport which is essential for the formation of sperm flagella.
Involvement in disease
Spermatogenic failure 76
SPGF76
An autosomal recessive male infertility disorder characterized by oligoasthenoteratozoospermia, and abnormally shaped spermatozoa in the semen of affected individuals. Sperm flagella have multiple morphological abnormalities, including short, absent, and irregular caliber flagella.
None
The disease may be caused by variants affecting the gene represented in this entry.
A chromosomal aberration involving CCDC34 is found in a patient with hamartoma of the retinal pigment epithelium and retina. Translocation t(11;18) (p13;p11.2).
Tissue Specificity
Expressed in sperm.
Cellular localization
- Cell projection
- Cilium
- Flagellum
- Mainly located in the mid-piece of sperm flagella.
Alternative names
RAMA3, L15, CCDC34, Coiled-coil domain-containing protein 34, Renal carcinoma antigen NY-REN-41