RFWD2
The rfwd2 Gene: Unraveling Its Role in Human Health
Description
The rfwd2 gene (ring finger WD repeat domain 2) is located on chromosome 19 and encodes a protein that belongs to the RWD family. This protein plays crucial roles in various cellular processes, including protein degradation, cell cycle regulation, and apoptosis.
The RFWD2 protein contains two distinct domains: a ring finger domain and a WD40 repeat domain. The ring finger domain is responsible for recognizing and binding specific protein substrates, while the WD40 repeat domain facilitates protein-protein interactions.
Associated Diseases
Mutations in the rfwd2 gene have been linked to several rare genetic disorders:
- Microcephalic primordial dwarfism: Characterized by severe growth retardation, microcephaly (small head), and intellectual disability.
- Aarskog syndrome: A developmental disorder that causes skeletal abnormalities, short stature, and facial dysmorphism.
- Laschkolb-type intellectual disability: A neurodevelopmental disorder associated with cognitive impairments, speech difficulties, and distinctive facial features.
Did you Know ?
Approximately 1 in 1,000,000 individuals are affected by microcephalic primordial dwarfism, which is one of the rarest genetic conditions associated with rfwd2 gene mutations.
