AMMECR1, AMMECR nuclear protein 1

AMMECR1, AMMECR nuclear protein 1

• 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]

• Gene Synonyms (AMME syndrome candidate gene 1 protein, Alport syndrome mental retardation midface hypoplasia and elliptocytosis chromosomal region protein 1, Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1, AMMERC1, MFHIEN,)
• NCBI Gene ID: 9949
• Species: Homo sapiens (Human)
• UNIPROT ID#>>A0A0S2Z4X0
  UNIPROT ID#>>Q9Y4X0
  UNIPROT ID#>>A0A0S2Z4V0
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

AMMECR nuclear protein 1 interacts with:

• ADAMTS like 4
  calcium binding and coiled-coil domain 2
  cleavage factor polyribonucleotide kinase subunit 1
  EGF containing fibulin extracellular matrix protein 2
  HR lysine demethylase and nuclear receptor corepressor
  keratin associated protein 10-1
  keratin associated protein 10-3
  keratin associated protein 10-8
  peptidylprolyl isomerase like 4
  RNA binding protein, mRNA processing factor
  tektin 4
  tensin 2
  tRNA splicing endonuclease subunit 54
  zinc finger protein 507
  zinc finger protein 703

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.