DISEASES

Disease-gene associations mined from literature

Literature associating ODF2 and chromosome 13q14 deletion syndrome

ODF2 [ENSP00000403453]

Outer dense fiber protein 2; Seems to be a major component of sperm tail outer dense fibers (ODF). ODFs are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail and may help to maintain the passive elastic structures and elastic recoil of the sperm tail. May have a modulating influence on sperm motility. Functions as a general scaffold protein that is specifically localized at the distal/subdistal appendages of mother centrioles. Component of the centrosome matrix required for the localization of PLK1 and NIN to the centrosomes. Required for the formation and/or maintenance of normal CETN1 assembly. ; Belongs to the ODF2 family.

Synonyms:  ODF2,  ODF2p,  hODF2,  A0A024R8A4,  A0A024R8A5 ...

Linkouts:  STRING  Pharos  UniProt