ODF1

Chr 8

outer dense fiber of sperm tails 1

Also known as: CT133, HSPB10, ODF, ODF27, ODFP, ODFPG, ODFPGA, ODFPGB

NCBI Gene: 4956 ENSG00000155087 UniProt: Q14990

The ODF1 protein is the main component of outer dense fibers, cytoskeletal structures that surround the sperm tail axoneme and maintain elastic structure while protecting against shear forces during sperm transport. Mutations cause abnormal sperm morphology and male infertility with autosomal recessive inheritance. This gene is highly constrained against loss-of-function variants, suggesting complete loss of function is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt

The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. The human outer dense fibers contains at least 10 major proteins and this gene encodes the main protein. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.27

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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