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- Table of Contents
Facts about AMME syndrome candidate gene 1 protein.
Human | |
---|---|
Gene Name: | AMMECR1 |
Uniprot: | Q9Y4X0 |
Entrez: | 9949 |
Belongs to: |
---|
No superfamily |
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosischromosomal region gene 1; AMME syndrome candidate gene 1 protein; AMMERC1
Mass (kDA):
35.463 kDA
Human | |
---|---|
Location: | Xq23 |
Sequence: | X; NC_000023.11 (110194186..110440233, complement) |
Nucleus.
PMID: 10049589 by Vitelli F., et al. Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME).
PMID: 28089922 by Basel-Vanagaite L., et al. X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.