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Gene : AMMECR1 Homo sapiens

Name  ? Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 Cytological Location  Xq23
Brief Description  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]
  • synonyms:
  • HGNC:467,
  • AMMECR1,
  • OTTHUMG00000022197,
  • AJ007014,
  • NM_001025580,
  • uc004eoo.4,
  • AMMERC1,
  • MFHIEN
  • identifiers:
  • 9949,
  • ENSG00000101935,
  • AMMECR1

Genome feature

Region: gene ? Length: 246048  
Location: X:110194186-110440233 reverse strand Cyto location: Xq23


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

13 SN Ps

5 Cross References

18 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results