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AMME syndrome candidate gene 1 protein

Below are the list of possible AMME syndrome candidate gene 1 protein products. If you cannot find the target and/or product is not available in our catalog, please click here to contact us and request the product or submit your request for custom elisa kit production, custom recombinant protein production or custom antibody production. Custom ELISA Kits, Recombinant Proteins and Antibodies can be designed, manufactured and produced according to the reer's specifications.

AMME syndrome candidate gene 1 protein

AMMECR1: Defects in AMMECR1 are involved in Alport syndrome with mental retardation midface hypoplasia and elliptocytosis (ATS-MR). A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, deafness, mental retardation, midface hypoplasia and elliptocytosis. 4 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: Xq22.3

Molecular Function: protein binding

Disease: Amme Complex

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