RP11-87M18.2
rp11-87m18.2 Gene: A Vital Player in Olfactory Perception and Neurological Development
Description:
The rp11-87m18.2 gene is located on chromosome 11 and encodes a protein involved in olfactory perception and neurological development. This gene plays a crucial role in the formation and function of sensory neurons, specifically olfactory sensory neurons, which detect odorants and transmit signals to the brain. Mutations in the rp11-87m18.2 gene have been linked to several disorders, including X-linked intellectual disability and anosmia (loss of smell).
Associated Diseases:
Mutations in the rp11-87m18.2 gene have been primarily associated with two main disorders:
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X-linked intellectual disability (XLID): This is a group of genetic disorders that primarily affect males and cause intellectual impairment. Mutations in the rp11-87m18.2 gene can lead to a specific type of XLID known as syndromic XLID, which is characterized by a combination of intellectual disability and other symptoms, such as seizures, speech impairments, and behavioral problems.
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Anosmia: Anosmia is a condition characterized by the loss of sense of smell. Mutations in the rp11-87m18.2 gene can cause both congenital anosmia (present from birth) and acquired anosmia (developed later in life). Congenital anosmia is often associated with other sensory impairments and may impact overall quality of life.
Did you Know ?
An estimated 1 in 10,000 males is affected by X-linked intellectual disability caused by mutations in the rp11-87m18.2 gene. This highlights the relatively rare but significant impact of this disorder.
