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]

Description

AMMECR nuclear protein 1

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Mitochondria

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (110194186 - 110440318)

Ensembl ID

ENSG00000101935  (ver. 103.38)

Orthologs

Mouse Ammecr1: ENSMUSG00000042225

UniProt

Q9Y4X0

neXtProt

NX_Q9Y4X0

Human splice variants
Mouse splice variants

Protein structure