C5orf30
C5orf30: An Intriguing Gene with Widespread Implications
Introduction
C5orf30 is a gene located on the human chromosome 5 that plays a significant role in various cellular processes. It encodes a protein known as chromosome 5 open reading frame 30 (C5orf30), which has been implicated in a range of biological functions, including cell growth, differentiation, and immune response.
Description
The C5orf30 gene consists of 10 exons and spans approximately 120 kilobases of genomic DNA. The encoded protein, C5orf30, is composed of 247 amino acids and contains several conserved domains, including an N-terminal coiled-coil domain and a C-terminal leucine zipper domain. These domains suggest that C5orf30 may interact with other proteins and participate in protein complexes.
Associated Diseases
Mutations in the C5orf30 gene have been linked to several human diseases, including:
- Intellectual disability and developmental delay: Mutations in C5orf30 have been identified in individuals with intellectual disability and developmental delay, characterized by difficulties in cognitive function, speech, and social interaction.
- Autism spectrum disorder (ASD): C5orf30 mutations have been associated with an increased risk of ASD, a neurodevelopmental disorder characterized by impaired social communication and repetitive behaviors.
- Microcephaly: Mutations in C5orf30 can lead to microcephaly, a condition characterized by an abnormally small head size due to reduced brain growth.
- Hearing loss: C5orf30 mutations have been linked to hearing loss, both congenital and acquired.
Did you Know ?
Approximately 1 in 40,000 individuals worldwide are estimated to carry a mutation in the C5orf30 gene. This makes C5orf30 mutations one of the more common genetic causes of intellectual disability.
