Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

PSAP

Gene name: prosaposin
OMIM ID: 176801
Chromosome location: 10q22.1

Mutations

Disease/PhenotypeMetachromatic leukodystrophy
Reference transcriptNM_002778.2
DNA Changec.909+1G>A
A.A. Change
Exon/Intronintron 8
Mutation Typesubstitution
ReferenceSiri L, Rossi A, Lanza F, Mazzotti R, Costa A, Stroppiano M, Gaiero A, Cohen A, Biancheri R, Filocamo M.A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers.
Neurogenetics. 2014 Jan 31. [Epub ahead of print]