LOC100130950
Loc100130950: A Comprehensive Guide
Description:
Loc100130950 is a gene located on chromosome 10q21.1. It encodes a protein known as HERC2. HERC2 belongs to a family of proteins called HECT domain and RCC1-like domain (HERC) proteins, which play a crucial role in various cellular processes, including protein ubiquitination, DNA repair, and cell cycle regulation.
Associated Diseases:
Mutations in the Loc100130950 gene have been linked to various genetic disorders, including:
- HERC2 Deficiency: A rare autosomal recessive disorder characterized by intellectual disability, developmental delay, autistic features, and dysmorphic facial features.
- Ellis-van Creveld Syndrome (EvC): An autosomal recessive disorder affecting limb development, leading to short stature, polydactyly (extra fingers or toes), heart defects, and other skeletal abnormalities.
- Short-Rib Polydactyly Syndrome (SRPS): A rare autosomal recessive disorder characterized by short ribs, polydactyly, and other skeletal malformations.
- Cartilage-Hair Hypoplasia (CHH): An X-linked recessive disorder affecting cartilage and hair development, leading to short stature, sparse hair, and skeletal abnormalities.
Did you Know ?
Approximately 1 in 50,000 individuals are affected by EvC, making it one of the most common short-limbed skeletal dysplasias worldwide.
