AMMECR1 (AMMECR nuclear protein 1)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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9949 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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AMMECR nuclear protein 1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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AMMECR1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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AMMERC1, MFHIEN |
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Chromosome
Chromosome number
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X |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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Xq23 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||
| UniProt ID | Q9Y4X0 | ||||||||||
| Protein name | Nuclear protein AMMECR1 (AMME syndrome candidate gene 1 protein) | ||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 333 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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