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KRT83

keratin 83
2 disorders 2 causative 12q13.13 gene with protein product
HGNC:6460MonarchNCBI Gene 3889ENSG00000170523UniProt P78385OMIM 602765

Previous symbols: KRTHB3. Aliases: Hb-3.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Erythrokeratodermia Variabilis causative
mechanism: Keratin 83 Loss of Function
subtype: EKVP5
scoped to subtype: EKVP5
Monilethrix causative
mechanism: Dominant-Negative Hair Cortex Keratin Variant
subtype: Monilethrix 3
scoped to subtype: Monilethrix 3
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.