The C-terminal 22 AA is required and sufficient for localization to telomeres at the nuclear envelope.
As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Required for telomere attachment to nuclear envelope in the prophase of meiosis (PubMed:35587281). Required for rapid telomere prophase movements implicating a SUN1/2:KASH5 LINC complex in which SUN1 and SUN2 seem to act at least partial redundantly. Required for homolog pairing during meiotic prophase in spermatocytes and probably oocytes. Essential for male and female gametogenesis (PubMed:35587281). Recruits cytoplasmic dynein to telomere attachment sites at the nuclear envelope in spermatocytes. In oocytes is involved in meiotic resumption and spindle formation.
Spermatogenic failure 88
SPGF88
An autosomal recessive male infertility disorder characterized by non-obstructive azoospermia due to primary spermatogenic arrest.
None
The disease is caused by variants affecting the gene represented in this entry.
Premature ovarian failure 22
POF22
A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF22 is an autosomal recessive form characterized by infertility, and small to atrophic ovaries and no visible ovarian follicles.
None
The disease is caused by variants affecting the gene represented in this entry.
Expressed in testis (at protein level).
CCDC155, KASH5, Protein KASH5, Coiled-coil domain-containing protein 155, KASH domain-containing protein 5
Proteins
Oncology
62783Da
We found 1 product in 1 category