Orphanet: PROP paired like homeobox 1

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PROP1 - PROP paired-like homeobox 1

Synonym(s) :
Previous symbols and names : prophet of Pit1, paired-like homeodomain transcription factor
Type : gene with protein product
Chromosomal location : 5q35.3
OMIM: 601538
HGNC: 9455
UniProtKB: O75360
Genatlas: PROP1
Ensembl: ENSG00000175325
IUPHAR-DB: -
Reactome: O75360
LOVD: PROP1

Diseases list

Disease-causing germline mutation(s) in Combined pituitary hormone deficiencies, genetic forms ORPHA:95494
Disease-causing germline mutation(s) in Hypothyroidism due to deficient transcription factors involved in pituitary development or function ORPHA:226307
Disease-causing germline mutation(s) in Panhypopituitarism ORPHA:90695

: Assessed

Additional information

Health care resources for this gene

Diagnostic tests (31)

Research activities on this gene

Specialised Social Services

Eurordis directory

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