polyalanine repeat diseases
Friday 23 April 2004
Expansions of trinucleotide repeats encoding polyalanine tracts have been recognized as the cause of several diseases, predominantly congenital malformation syndromes.
In 2005, nine genes with alanine tract expansions have been described.
With the exception of PABPN1, which codes for a poly(A)-binding protein, all these genes encode transcription factors that play important roles during development.
Polyalanine tracts are relatively common in the genome and occur most frequently in transcription factors and other proteins with nuclear localization.
The molecular role of alanine tracts is unknown, but their strong evolutionary conservation suggests the existence of potent functional or structural constraints.
|FOXL2||blepharophimosis-ptosis-epicanthus inversus syndactyly||BPES||MIM.110100|
|PHOX2B||congenital failure of autonomic control||-||MIM.209880|
|ARX||X-linked infantile spasm syndrome||-||MIM.308350|
|SOX3||X-linked mental retardation with isolated growth hormone deficiency||MRGH||MIM.300123|
|PABPN1||oculopharyngeal muscular dystrophy||OPMD||MIM.164300|