AlphaFold predicted structure
VMA21 · Q3ZAQ7
Mean pLDDT
70.8/ 100
Confident
101 residues
Confidence breakdown
- Very high(≥ 90)0%
- Confident(70–90)52%
- Low(50–70)44%
- Very low(< 50)5%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
VMA21
Chr Xq28vacuolar ATPase assembly factor VMA21
- Aliases:
- XMEA
- MANE:
- ENST00000330374.7
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Congenital myopathy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesLimb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Disease associations (Open Targets)
X-linked myopathy with excessive autophagy
0.72neurodegenerative disease
0.47hereditary disease
0.41ossification of the posterior longitudinal ligament of the spine
0.08colorectal carcinoma
0.07neoplasm
0.03congenital disorder of glycosylation
0.02breast carcinoma
0.02breast cancer
0.02ovarian carcinoma
0.01
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Vacuolar ATPase assembly integral membrane protein VMA21
Required for the assembly of the V0 complex of the vacuolar ATPase (V-ATPase) in the endoplasmic reticulum