LOC101928158
loc101928158 Gene: Unraveling Its Role in Health and Disease
Description
The loc101928158 gene, also known as C1orf215, is located on human chromosome 1. It encodes a protein that is involved in various cellular processes, including protein synthesis, cell cycle regulation, and DNA damage repair.
Associated Diseases
Mutations in the loc101928158 gene have been linked to several genetic disorders, including:
- Spinocerebellar ataxia type 36 (SCA36): A neurodegenerative disorder characterized by progressive loss of balance and coordination.
- Pontocerebellar hypoplasia type 1 (PCH1): A rare congenital disorder that affects the development of the cerebellum and brainstem.
- Microcephaly with chorioretinal lacunae (MCRL): A severe congenital disorder marked by an abnormally small head and eye abnormalities.
Did you Know ?
Approximately 1 in 5,000 people worldwide are affected by a mutation in the loc101928158 gene.
