RHBDF2

rhbdf2: A Comprehensive Guide to the Gene, Associated Diseases, and Latest Research

Description

rhbdf2 (rhomboid 5, family member 2) is a gene that encodes a protein of the same name. This protein is involved in various cellular processes, including cell adhesion, cell migration, and cell signaling. Mutations in the rhbdf2 gene have been linked to several neurological and developmental disorders.

Associated Diseases

Mutations in the rhbdf2 gene have been associated with the following diseases:

• Pontocerebellar Hypoplasia Type 1 (PCH1): A rare genetic disorder characterized by severe degeneration of the cerebellum and brainstem.
• Microcephaly (MCPH): A condition characterized by an abnormally small head size.
• Intellectual Disability (ID): A range of cognitive impairments that affect daily living and learning.
• Spinal Muscular Atrophy with Lower Extremity Predominance (SMALED): A muscle-wasting disease that primarily affects the lower limbs.
• Spinocerebellar Ataxia with Axonal Neuropathy (SCAN1): A neurodegenerative disorder characterized by progressive difficulty with movement, coordination, and sensation.

Did you Know ?

Mutations in the rhbdf2 gene are estimated to account for approximately 1-2% of cases of pontocerebellar hypoplasia type 1.