PTDSS2
Description
The PTDSS2 (phosphatidylserine synthase 2) is a protein-coding gene located on chromosome 11.
PTDSS2 (gene), also known as L-serine-phosphatidylethanolamine phosphatidyltransferase, is an enzyme that catalyzes the conversion of L-1-phosphatidylethanolamine to L-1-phosphatidylserine by replacing the polar head group of phosphatidylethanolamine with L-serine. This reaction is reversible.
PTDSS2 catalyzes a base-exchange reaction where the polar head group of phosphatidylethanolamine (PE) is replaced by L-serine. It does not act on phosphatidylcholine (PC). PTDSS2 can utilize both phosphatidylethanolamine (PE) plasmalogen and diacyl PE as substrates, with diacyl PE being six times more efficient, highlighting the importance of an ester linkage at the sn-1 position. While PTDSS2 has no preference for sn-1 fatty acyl, it demonstrates a strong preference for docosahexaenoic acid (22:6n-3) over 18:1 or 20:4 at the sn-2 position.
PTDSS2 is also known as PSS2.
Associated Diseases
- isolated congenital hypogonadotropic hypogonadism
- partial chromosome Y deletion
- male infertility with teratozoospermia due to single gene mutation
- 46,XX testicular disorder of sex development
- hypergonadotropic hypogonadism-cataract syndrome
- spinocerebellar ataxia type 32
- spermatogenic failure, X-linked, 2
- 46,XY complete gonadal dysgenesis
- spermatogenic failure 28
- spermatogenic failures 50
- isochromosomy Yp
- spermatogenic failure 63
- spermatogenic failure 25
