LOC101928650
Loc101928650: An In-Depth Exploration
Description
Loc101928650 is a family with sequence similarity 39 (FAM39) protein, also known as chromosome 10 open reading frame 1928650 (C10orf1928650). It's a member of the FAM39 protein family, characterized by a conserved coiled-coil domain. Loc101928650 is primarily located in the cytoplasm and plays a crucial role in cellular processes such as mRNA stability, protein translation, and cell cycle progression.
Associated Diseases
Mutations in Loc101928650 have been linked to several human diseases, including:
- intellectual disability: Mutations can cause a range of intellectual disabilities, from mild to severe, often accompanied by delayed development and speech impairments.
- autism spectrum disorder: Studies have identified associations between Loc101928650 variants and autism spectrum disorder (ASD), suggesting its involvement in neurodevelopmental pathways.
- congenital heart defects: Mutations in Loc101928650 have been implicated in congenital heart defects, underscoring its role in early embryonic development.
Did you Know ?
据估计，Loc101928650基因突变与约6%的不明原因的智力残疾病例有关。
