PROP1
Gene name: PROP paired-like homeobox 1OMIM ID: 601538
Chromosome location: 5q35.3
Mutations
| Disease/Phenotype | Pituitary hormone deficiency, combined, 2 |
|---|---|
| Reference transcript | NM_006261.4 |
| DNA Change | c.217C>T |
| A.A. Change | p.Arg73Cys |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Fritez N, Sobrier ML, Iraqi H, Vié-Luton MP, Netchine I, El Annas A, Pantel J, Collot N, Rose S, Piterboth W, Legendre M2, Chraibi A, Amselem S, Kadiri A, Hilal L.Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism. Clin Endocrinol (Oxf). 2015 Jun;82(6):876-84. |
| Disease/Phenotype | Pituitary hormone deficiency, combined, 2 |
|---|---|
| Reference transcript | NM_006261.4 |
| DNA Change | c.358C>T |
| A.A. Change | p.Arg120Cys |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | Lazar L, Gat-Yablonski G, Kornreich L, Pertzelan A, Phillip M.PROP-1 gene mutation (R120C) causing combined pituitary hormone deficiencies with variable clinical course in eight siblings of one Jewish Moroccan family. Horm Res. 2003;60(5):227-31. |