UBE3C Chromosome 7

Ubiquitin protein ligase E3C

1 variant 1 Health Risk

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What This Gene Does

Enables ubiquitin protein ligase activity. Involved in protein K29-linked ubiquitination; protein K48-linked ubiquitination; and ubiquitin-dependent protein catabolic process. Predicted to be part of proteasome complex. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

HECT domain containing

Locus Type

gene with protein product

Location

7q36.3

Ensembl

ENSG00000009335

Associated Conditions (2)

See cases

Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities

Key Variants

RS2535694722

Pathogenic/Likely pathogenic

See cases, Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, See cases

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS2535694722	Health Risk	Pathogenic/Likely pathogenic	See cases, Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, See cases