Tessadori-Bicknell-van Haaften syndrome variants: nucleosome assembly (WP5573)

Homo sapiens

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Tessadori-Bicknell-van Haaften syndrome: Subset to the TEBINVAD causing genes involved in nucleosome assembly. For an overview of all genes and pathways involved see WP5575.

For a description of pathway objects, see the WikiPathways Legend.

Authors

Jorinde Lohmann , Yuanyuan Duan , Friederike Ehrhart , and Egon Willighagen

Activity

last edited

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Disease Ontology

epilepsy

Pathway Ontology

disease pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
DAXX GeneProduct ensembl:ENSG00000204209
CHAF1B GeneProduct ensembl:ENSG00000159259
H2BC12 GeneProduct ensembl:ENSG00000197903
ATRX GeneProduct ensembl:ENSG00000085224
RBBP4 GeneProduct ensembl:ENSG00000162521
CHAF1A GeneProduct ensembl:ENSG00000167670
HIRA GeneProduct ensembl:ENSG00000100084
H4C1 GeneProduct ensembl:ENSG00000278637
H4C3 GeneProduct ensembl:ENSG00000197061
H4C9 GeneProduct ensembl:ENSG00000276180
H4C5 GeneProduct ensembl:ENSG00000276966
H4C11 GeneProduct ensembl:ENSG00000197238
H3 Protein uniprot:B4E380
H4 Protein None
H2A Protein uniprot:B2R5B3
H2B Protein uniprot:B4DR52

References

  1. Functional characterization of human nucleosome assembly protein 1-like proteins as histone chaperones. Okuwaki M, Kato K, Nagata K. Genes Cells. 2010 Jan;15(1):13–27. PubMed Europe PMC Scholia
  2. Histone chaperone CAF-1: essential roles in multi-cellular organism development. Yu Z, Liu J, Deng WM, Jiao R. Cell Mol Life Sci. 2015 Jan;72(2):327–37. PubMed Europe PMC Scholia
  3. Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. Tessadori F, Duran K, Knapp K, Fellner M, Deciphering Developmental Disorders Study, Smithson S, et al. Am J Hum Genet. 2022 Apr 7;109(4):750–8. PubMed Europe PMC Scholia
  4. Altered chromatin occupancy of patient-associated H4 mutants misregulate neuronal differentiation. Feng L, Barrows D, Zhong L, Mätlik K, Porter EG, Djomo AM, et al. bioRxiv. 2023 Sep 29;2023.09.29.560141. PubMed Europe PMC Scholia