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Protein Page:
ZNF469 (human)

Overview
ZNF469 May be involved in transcriptional regulation. Defects in ZNF469 are the cause of brittle cornea syndrome type 1 (BCS1). A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints. It shares some features with, but is much less severe than, the ocular form of Ehlers-Danlos syndrome (EDS6). Belongs to the krueppel C2H2-type zinc-finger protein family. Note: This description may include information from UniProtKB.
Protein type: C2H2-type zinc finger protein
Chromosomal Location of Human Ortholog: 16q24
Disease: Brittle Cornea Syndrome 1
Reference #:  Q96JG9 (UniProtKB)
Alt. Names/Synonyms: BCS; KIAA1858; Zinc finger protein 469; ZN469; ZNF469
Gene Symbols: ZNF469
Molecular weight: 410,202 Da
Basal Isoelectric point: 7.88  Predict pI for various phosphorylation states
Select Structure to View Below

ZNF469

Protein Structure Not Found.


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