proteasome 26S subunit, ATPase 3
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMonogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedBilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedHereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomalSevere microcephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedneurodevelopmental disorder
plasma cell myeloma
mantle cell lymphoma
neurodegenerative disease
neoplasm
amyloidosis
hereditary disease
HIV infectious disease
microcephaly
AL amyloidosis
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
26S proteasome regulatory subunit 6A
Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC3 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides
Curated MONDO disease pages that list PSMC3 among their top associated genes.
PSMC3 · P17980
Mean pLDDT
80.6/ 100
Confident
439 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
