AMMECR1

GENE INFORMATION

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Gene name

AMMECR1

Synonyms

Description

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

X (Chromosome progress)

Cytoband

q23

Chromosome location (bp)

109437414 - 109683461

Ensembl

ENSG00000101935 (version 73.37)

Entrez gene

9949

UniProt

Q9Y4X0 (UniProt - Evidence at transcript level)

neXtProt

NX_Q9Y4X0

Antibodypedia

AMMECR1 antibodies
 

PROTEIN VIEW

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AMMECR1-001
 
AMMECR1-002
 
AMMECR1-005
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

AMMECR1-001 ENSP00000262844
ENST00000262844
Q9Y4X0
Show all »
Show » 333 35.5 No 0
AMMECR1-002 ENSP00000361127
ENST00000372057
Q9Y4X0
Show all »
Show » 210 24.6 No 0
AMMECR1-005 ENSP00000361129
ENST00000372059
Q9Y4X0
Show all »
Show » 296 31.3 No 0