RGPD5
Description
The RGPD5 (RANBP2 like and GRIP domain containing 5) is a protein-coding gene located on chromosome 2.
The RGPD5 gene encodes a protein called RANBP2-like and GRIP domain-containing protein 5. This protein is similar to RANBP2, a protein involved in nuclear transport. RANBP2 binds to RAN, a small GTP-binding protein involved in various cellular functions. RGPD5 is located on a chromosome region that is close to the location of the RANBP2 gene. It is thought that RGPD5 arose from a duplication of the RANBP2 gene. The RGPD5 gene can produce several different versions of the protein through alternative splicing. RGPD5 has been shown to interact with Transportin 1, another protein involved in nuclear transport.
RGPD5 is also known as BS-63, BS63, HEL161, RGP5.
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
- myofibromatosis, infantile, 1
- BAP1-related tumor predisposition syndrome
- Li-Fraumeni syndrome
- familial atypical multiple mole melanoma syndrome
- familial male-limited precocious puberty
- Ollier disease
- partial chromosome Y deletion
- X-linked intellectual disability-macrocephaly-macroorchidism syndrome
- spermatogenic failures 50
- colorectal cancer, susceptibility to, 12
