Family

AMMECR1 (IPR023473)

Short name: AMMECR1

Family relationships

Description

The contiguous gene deletion syndrome is characterised by Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E), as well as generalized hypoplasia and cardiac abnormalities. It is caused by a deletion in Xq22.3, comprising several genes including AMME chromosomal region gene 1 (AMMECR1), which encodes a protein with a nuclear location and presently unknown function. The C-terminal region of AMMECR1 (from residue 122 to 333) is well conserved, and homologues appear in species ranging from bacteria and archaea to eukaryotes. The high level of conservation of the AMMECR1 domain points to a basic cellular function, potentially in either the transcription, replication, repair or translation machinery [PMID: 10049589, PMID: 10828604].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER
TIGRFAMs