Tessadori-Bicknell-van Haaften syndrome 3 overview pathway (WP5575)

Homo sapiens

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This pathway depicts the mechanistic pathway map for Tessadori-Bicknell-van Haaften syndrome 3. The comprehensive overview pathways illustrates the disease etiology which can be cross-referenced and linked to other pathways where the molecular details are shown.

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

Authors

Jorinde Lohmann , Yuanyuan Duan , and Friederike Ehrhart

Activity

last edited

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Pathway Ontology

disease pathway

Disease Ontology

epilepsy

Participants
Query Drugst.One

Label Type Compact URI Comment
H4C5 GeneProduct ensembl:ENSG00000276966
LOC129996027 GeneProduct ncbiprotein:129996027
H4C3 GeneProduct hgnc.symbol:H4C3
MED23 GeneProduct ensembl:ENSG00000112282
MED27 GeneProduct ensembl:ENSG00000160563
TAF2 GeneProduct ensembl:ENSG00000064313
TAF8 GeneProduct ensembl:ENSG00000137413
TAF13 GeneProduct ensembl:ENSG00000197780
TBP GeneProduct ensembl:ENSG00000112592
H4C1 GeneProduct ensembl:ENSG00000278637

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. Integrated molecular mechanism directing nucleosome reorganization by human FACT. Tsunaka Y, Fujiwara Y, Oyama T, Hirose S, Morikawa K. Genes Dev. 2016 Mar 15;30(6):673–86. PubMed Europe PMC Scholia
  3. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, et al. Ann Neurol. 2021 Apr;89(4):828–33. PubMed Europe PMC Scholia
  4. 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