NP_056180.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
24,581 Da
NCBI Official Full Name
AMME syndrome candidate gene 1 protein isoform 1
NCBI Official Synonym Full Names
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
NCBI Official Synonym Symbols
NCBI Protein Information
AMME syndrome candidate gene 1 protein
UniProt Protein Name
AMME syndrome candidate gene 1 protein
UniProt Entry Name
AMMR1_HUMAN
NCBI Summary for AMMECR1
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]
UniProt Comments for AMMECR1
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
Research Articles on AMMECR1
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Products associated with AMMECR1 elisa kit
Diseases associated with AMMECR1 elisa kit
Organs/Tissues associated with AMMECR1 elisa kit
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