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PQBP1 - polyglutamine binding protein 1
- Synonym(s) :
- Previous symbols and names : 'mental retardation, X-linked 2 (non-dysmorphic)', 'mental retardation, X-linked 55', MRX2, MRX55, MRXS3, MRXS8, RENS1, SHS, Sutherland-Haan X-linked mental retardation syndrome, mental retardation, x-linked 2 (non-dysmorphic), mental retardation, x-linked 55, sutherland-haan x-linked mental retardation syndrome
- Type : gene with protein product
- Chromosomal location : Xp11.23
- OMIM: 300463
- HGNC: 9330
- UniProtKB: O60828
- Genatlas: PQBP1
- GenCC: PQBP1
- Ensembl: ENSG00000102103
- IUPHAR-DB: -
- Reactome: O60828
- LOVD: PQBP1
Diseases list
- Disease-causing germline mutation(s) in Hamel cerebro-palato-cardiac syndrome
ORPHA:93946 
- Disease-causing germline mutation(s) in X-linked intellectual disability, Golabi-Ito-Hall type
ORPHA:93947 - Disease-causing germline mutation(s) in X-linked intellectual disability, Porteous type
ORPHA:93945 - Disease-causing germline mutation(s) in X-linked intellectual disability, Sutherland-Haan type
ORPHA:93950
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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