LOC101929387
Loc101929387 Gene: An Unraveling Mystery
Description
The loc101929387 gene resides on the human chromosome 10 and encodes a protein of unknown function. This gene belongs to a family of genes associated with various biological processes, including cellular development and differentiation. However, the specific role of loc101929387 in these processes remains largely undiscovered.
Associated Diseases
Mutations in the loc101929387 gene have been linked to two rare genetic disorders:
- Microcephaly (MCPH): A condition characterized by an abnormally small head and intellectual disability.
- Seckel Syndrome: A rare disorder involving microcephaly, growth retardation, and characteristic facial features.
These disorders are caused by alterations in the gene's coding sequence, resulting in the production of a nonfunctional or truncated protein. The exact mechanisms by which these mutations lead to the observed developmental abnormalities are still being investigated.
Did you Know ?
Only a handful of cases with mutations in loc101929387 have been reported worldwide, highlighting the extreme rarity of these conditions. The prevalence of these disorders is estimated to be less than 1 in a million.
