UniProt Protein Function: | 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: Xq22.3Molecular Function: protein bindingDisease: Amme Complex |
UniProt Protein Details: | |
NCBI 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] |
UniProt Code: | Q9Y4X0 |
NCBI GenInfo Identifier: | 48475039 |
NCBI Gene ID: | 9949 |
NCBI Accession: | Q9Y4X0.1 |
UniProt Secondary Accession: | Q9Y4X0,Q5JYV9, Q6P9D8, Q8WX22, Q9UIQ8 |
UniProt Related Accession: | Q9Y4X0 |
Molecular Weight: | 24,581 Da |
NCBI Full Name: | AMME syndrome candidate gene 1 protein |
NCBI Synonym Full Names: | Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 |
NCBI Official Symbol: | AMMECR1 |
NCBI Official Synonym Symbols: | AMMERC1 |
NCBI Protein Information: | AMME syndrome candidate gene 1 protein |
UniProt Protein Name: | AMME syndrome candidate gene 1 protein |
UniProt Synonym Protein Names: | |
Protein Family: | AMMECR1-like protein |
UniProt Gene Name: | AMMECR1 |
UniProt Entry Name: | AMMR1_HUMAN |