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SOX3 - SRY-box transcription factor 3
- Synonym(s) :
- Previous symbols and names : PHP, Panhypopituitarism, SRY (sex determining region Y)-box 3, SRY box 3, SRY-box 3, panhypopituitarism
- Type : gene with protein product
- Chromosomal location : Xq27.1
- OMIM: 313430
- HGNC: 11199
- UniProtKB: P41225
- Genatlas: SOX3
- GenCC: SOX3
- Ensembl: ENSG00000134595
- IUPHAR-DB: -
- Reactome: P41225
- LOVD: SOX3
Diseases list
- Disease-causing germline mutation(s) in Septo-optic dysplasia spectrum
ORPHA:3157 
- Disease-causing germline mutation(s) in X-linked congenital generalized hypertrichosis
ORPHA:79495 - Disease-causing germline mutation(s) in X-linked intellectual disability with isolated growth hormone deficiency
ORPHA:67045 - Disease-causing germline mutation(s) (loss of function) in Non-acquired panhypopituitarism
ORPHA:90695 - Disease-causing germline mutation(s) (gain of function) in 46,XX testicular difference of sex development
ORPHA:393
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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