C22orf39
Description
The C22ORF39 (chromosome 22 open reading frame 39) is a protein-coding gene located on chromosome 22.
C22ORF39, also known as PANTS (Plasticity-associated neural transcript short), plays a key role in regulating synaptic plasticity. It negatively impacts long-term potentiation and modulates synaptic plasticity in mature neurons. C22ORF39 stabilizes the interaction between RTN4 isoform A (Nogo-A) and its receptors, preventing the clustering of AMPA receptors at synapses. Upon neuronal stimulation, C22ORF39 is degraded at synapses, diminishing RTN4 signaling and enabling AMPA receptor clustering at specific synapses.
C22ORF39 is also known as Pants.
Associated Diseases
- isolated congenital hypogonadotropic hypogonadism
- 46,XY complete gonadal dysgenesis
- 46,XX testicular disorder of sex development
- 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- familial male-limited precocious puberty
- partial chromosome Y deletion
- X-linked intellectual disability-macrocephaly-macroorchidism syndrome
- spermatogenic failures 50
- spermatogenic failure, X-linked, 2
- 46,XX ovotesticular disorder of sex development
- familial adrenal hypoplasia with absent pituitary luteinizing hormone
- spinocerebellar ataxia type 32
- testicular agenesis
- 46,XY partial gonadal dysgenesis
- ring chromosome Y
- Leydig cell hypoplasia
- partial androgen insensitivity syndrome
