AlphaFold predicted structure
AMN · Q9BXJ7
Mean pLDDT
80.5/ 100
Confident
453 residues
Confidence breakdown
- Very high(≥ 90)60%
- Confident(70–90)14%
- Low(50–70)10%
- Very low(< 50)17%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
AMN
Chr 14q32.32amnion associated transmembrane protein
- Aliases:
- amnionless
- MANE:
- ENST00000299155.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Cytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalProteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalRare anaemia
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalUnexplained kidney failure in young people
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
Gräsbeck-Imerslund disease
0.76Imerslund-Grasbeck syndrome type 2
0.72Imerslund-Grasbeck syndrome
0.65neurodegenerative disease
0.44megaloblastic anemia
0.37Decreased circulating vitamin B12 concentration
0.37suicidal ideation
0.33suicide behaviour
0.33stroke disorder
0.28alcohol drinking
0.28
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Protein amnionless
Membrane-bound component of the endocytic receptor formed by AMN and CUBN (PubMed:14576052, PubMed:29402915, PubMed:30523278). Required for normal CUBN glycosylation and trafficking to the cell surface (PubMed:14576052, PubMed:29402915). The complex formed by AMN and CUBN is required for efficient absorption of vitamin B12 (PubMed:12590260, PubMed:14576052, PubMed:26040326). Required for normal CUBN-mediated protein transport in the kidney (Probable)