zinc metallopeptidase STE24
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFamilial diabetes
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalInsulin resistance (including lipodystrophy)
BIALLELIC, autosomal or pseudoautosomalMonogenic diabetes
BIALLELIC, autosomal or pseudoautosomalSevere insulin resistance and lipodystrophy syndromes
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal+5 more panels — install the extension to see the full list inline on any page.
mandibuloacral dysplasia with type B lipodystrophy
Lethal restrictive dermopathy
restrictive dermopathy 1
mandibuloacral dysplasia
restrictive dermopathy
atrial fibrillation
Hutchinson-Gilford progeria syndrome
hereditary disease
infection
metabolic dysfunction-associated steatotic liver disease
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
CAAX prenyl protease 1 homolog
Transmembrane metalloprotease whose catalytic activity is critical for processing lamin A/LMNA on the inner nuclear membrane and clearing clogged translocons on the endoplasmic reticulum (PubMed:33293369, PubMed:33315887). Proteolytically removes the C-terminal three residues of farnesylated proteins (PubMed:33293369, PubMed:33315887). Also plays an antiviral role independently of its protease activity by restricting enveloped RNA and DNA viruses, including influenza A, Zika, Ebola, Sindbis, vesicular stomatitis, cowpox, and vaccinia (PubMed:28169297, PubMed:28246125). Mechanistically, controls IFITM antiviral pathway to hinder viruses from breaching the endosomal barrier by modulating membrane fluidity (PubMed:35283811)
ZMPSTE24 · O75844
Mean pLDDT
89.4/ 100
Confident
475 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
