8P7G
Structural characterization of PHOX2B and its DNA interactions shed lights into the molecular basis of the + 7Ala variant pathogenicity in CCHS
Summary for 8P7G
| Entry DOI | 10.2210/pdb8p7g/pdb |
| NMR Information | BMRB: 34822 |
| Descriptor | Paired mesoderm homeobox protein 2B (1 entity in total) |
| Functional Keywords | transcription factor, homeodomain, congenital central hypoventilation syndrome, polyala expansions, protein binding |
| Biological source | Homo sapiens (human) |
| Total number of polymer chains | 1 |
| Total formula weight | 7741.80 |
| Authors | Russo, L.,Diana, D.,Fattorusso, R. (deposition date: 2023-05-30, release date: 2024-05-15, Last modification date: 2024-06-26) |
| Primary citation | Diana, D.,Pirone, L.,Russo, L.,D'Abrosca, G.,Madheswaran, M.,Benfante, R.,Di Lascio, S.,Caldinelli, L.,Fornasari, D.,Acconcia, C.,Corvino, A.,Ventserova, N.,Pollegioni, L.,Isernia, C.,Di Gaetano, S.,Malgieri, G.,Pedone, E.M.,Fattorusso, R. Structural characterization of PHOX2B and its DNA interaction shed light on the molecular basis of the +7Ala variant pathogenicity in CCHS. Chem Sci, 15:8858-8872, 2024 Cited by PubMed: 38873078DOI: 10.1039/d3sc06427a PDB entries with the same primary citation |
| Experimental method | SOLUTION NMR |
Structure validation
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