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autism susceptibility gene 2 protein (AUTS2, KIAA0442)
Alternative splicing: named isoforms=2
Expression:
- expressed in brain, skeletal muscle, kidney > placenta, lung, leukocytes
Pathology:
- gene is interrupted by a translocation breakpoint in a pair of autistic twins
General
other protein
Properties
SIZE: MW = 139 kD
entity length = 1259 aa
MOTIF: serine-rich region {383-410}
MOTIF: serine residue (SEVERAL)
histidine-rich region {525-548}
MOTIF: histidine residue (SEVERAL)
histidine-rich region {1122-1181}
MOTIF: histidine residue (SEVERAL)
Database Correlations
OMIM 607270
UniProt Q8WXX7
References
UniProt :accession Q8WXX7