cataract 48

Summary
Synonym
  • CTRCT48
Definition
A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment.
Super Class
autosomal recessive disease cataract
Disease Ontology
DOID:0070354
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23268 DNMBP dynamin binding protein
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q6XZF7 Dynamin-binding protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025