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Gene: AMMECR1 (Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1) Homo sapiens
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Symbol: AMMECR1
Name: Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Alport syndrome mental retardation midface hypoplasia and elliptocytosis chromosomal region protein 1; Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region,; AMME syndrome candidate gene 1 protein; AMMERC1; MFHIEN
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X110,194,186 - 110,440,233 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X109,437,414 - 109,683,461 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X109,324,070 - 109,448,036 (-)NCBINCBI36hg18NCBI36
Build 34X109,247,762 - 109,367,612NCBI
CeleraX109,917,037 - 110,163,085 (-)NCBI
Cytogenetic MapXq23NCBI
HuRefX99,058,022 - 99,303,793 (-)NCBIHuRef
CHM1_1X109,348,657 - 109,594,672 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on AMMECR1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1347096
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.