KIAA1024L
Kiaa1024l: A Gene of Intriguing Connections
Description
Kiaa1024l is a gene located on chromosome 11q13.1. It encodes a protein that is involved in maintaining cellular homeostasis and cellular response to stress. The protein contains several domains, including a ubiquitin-like domain, a coiled-coil domain, and a conserved motif of unknown function (DUF4173).
Associated Diseases
Mutations in the kiaa1024l gene have been linked to several rare genetic disorders, including:
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Pontocerebellar Hypoplasia Type 2D (PCH2D): This is a neurodegenerative disorder characterized by progressive loss of motor skills, speech difficulties, and intellectual disability. It is caused by mutations that truncate the kiaa1024l protein.
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Microcephaly and Severe Intellectual Disability with Spheroiding Neurons: This is a rare condition characterized by severe microcephaly (abnormally small head size) and intellectual disability. It is caused by mutations that lead to the production of a truncated, non-functional kiaa1024l protein.
Did you Know ?
Approximately 1 in 100,000 individuals are affected by pontocerebellar hypoplasia type 2D, making it a relatively rare genetic disorder.
