DNALI1
Function
Involved in sperm flagellum assembly.
Involvement in disease
Spermatogenic failure 83
SPGF83
An autosomal recessive male infertility disorder characterized by asthenoteratozoospermia. Patient sperm exhibit an asymmetric fibrous sheath of the flagella.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the inner dynein arm light chain family.
Tissue Specificity
Expressed in many tissues. A smaller 0.9 kb and a larger 2.5 kb transcripts were detected at the highest level in the testis, at medium levels in the prostate, heart, liver, lung and pancreas, at low levels in the ovary, skeletal muscle and small intestine. Not detected in spleen, colon epithelium, thymus or peripheral blood leukocytes. The 0.9 kb transcript is expressed at a 20-fold higher level than the 2.5 kb transcript in the testis. Expressed in spermatozoa and airway epithelial cells (at protein level) (PubMed:31178125).
Cellular localization
- Cell projection
- Cilium
- Cell projection
- Cilium
- Flagellum
- Dynein axonemal particle
- Cytoplasm
Alternative names
Axonemal dynein light intermediate polypeptide 1, hp28, DNALI1