XKR8
Description
The XKR8 (XK related 8) is a protein-coding gene located on chromosome 1.
XKR8 is a phospholipid scramblase that promotes phosphatidylserine exposure on the surface of apoptotic cells. This exposure acts as a signal for engulfment by other cells, playing a crucial role in clearing apoptotic cells. XKR8 is involved in processes like the engulfment of apoptotic germ cells by Sertoli cells, clearance of senescent neutrophils, and regulating bipolar cell numbers in the retina. It has no effect on calcium-induced exposure of phosphatidylserine but promotes myoblast differentiation and survival. (UniProtKB:Q8C0T0, PubMed:23845944, PubMed:25231987, PubMed:28881496)
XKR8 is also known as XRG8, hXkr8.
Associated Diseases
- partial chromosome Y deletion
- male infertility with teratozoospermia due to single gene mutation
- congenital bilateral absence of vas deferens
- spermatogenic failure 25
- spinocerebellar ataxia type 32
- isolated congenital hypogonadotropic hypogonadism
- isochromosomy Yp
- spermatogenic failures 50
- Moyamoya disease
- spermatogenic failure 63
- partial androgen insensitivity syndrome
- spermatogenic failure, X-linked, 2
- 46,XX testicular disorder of sex development
- isochromosomy Yq
- 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
- hypogonadotropic hypogonadism
- spermatogenic failure 48
- spermatogenic failure 44
