AMMECR1
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
Synonyms:
AMMERC1
Species:
Human AMMECR1 (9949), Mouse Ammecr1 (56068), Rat Ammecr1 (501539), chicken AMMECR1 (422343), domestic guinea pig Ammecr1 (100721876), naked mole-rat Ammecr1 (101715875), cow AMMECR1 (615842), sheep AMMECR1 (101113829), dog AMMECR1 (492063), Zebrafish ammecr1 (393553)
UniProtKB ID:
Gene ID:
- Human(9949) Summary: 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 hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
- Mouse(56068) Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
- Rat(501539) Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
- chicken(422343) Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
- domestic guinea pig(100721876) Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
- naked mole-rat(101715875) Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
- cow(615842) Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
- sheep(101113829) Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
- dog(492063) Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
- Zebrafish(393553) Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 homolog (human)
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Antibodies
Product Number
Description
Species Reactivity
Application
Anti-AMMECR1 antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody,
Species Reactivity
human
Application
immunohistochemistry
Anti-AMMECR1 antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Species Reactivity
human
Application
immunohistochemistry
Anti-AMMECR1 antibody produced in mouse, purified immunoglobulin, buffered aqueous solution,
Species Reactivity
human
Application
western blot
esiRNA
Product Number
Description
Species