Aliases for LOC109504725 Gene
External Ids for LOC109504725 Gene
- Entrez Gene: 109504725
This biological region is found within the 5' region of the androgen receptor gene on the q arm of the X chromosome, and contains a CAG trinucleotide repeat. Expansions of this repeat result in an elongated polyglutamine tract in the encoded protein, and are known to be a cause of spinal and bulbar muscular atrophy (SBMA, also known as Kennedy's disease). This is a highly polymorphic region, with up to 34 repeats in unaffected individuals, reduced penetrance with 36-37 repeats, while the disease phenotype can be observed with 37 or more repeats. Expanded alleles exhibit instability, with greater instability observed during male transmissions. In many cases, there is a direct correlation between CAG repeat number and severity of disease, and in inverse relationship with age of disease onset and repeat number. Exceptions to this have been noted, and CAG repeat number does not account for all of the observed phenotypic variation. [provided by RefSeq, Jan 2017]
GeneCards Summary for LOC109504725 Gene
LOC109504725 (Androgen Receptor Repeat Instability Region) is a Biological Region gene. Diseases associated with LOC109504725 include Muscular Atrophy.