AMMECR1
Description
The AMMECR1 (AMMECR nuclear protein 1) is a protein-coding gene located on chromosome X.
AMMECR1 is a protein encoded by the AMMECR1 gene on human chromosome Xq22.3. Deletions in this region can lead to a contiguous gene deletion syndrome characterized by Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis, along with other developmental abnormalities. The protein's C-terminal region is highly conserved across various species, indicating a fundamental cellular role. Its domain contains a conserved motif and consists of two subdomains with distinct structures, suggesting potential involvement in processes like transcription, replication, repair, or translation.
The exact function of AMMECR1 protein remains unknown, but its high level of conservation throughout evolution suggests a fundamental role in cellular processes. The protein's domain contains a conserved six-amino-acid motif (LRGCIG) that may be crucial for its function. The protein's structure suggests it might be involved in transcription, replication, repair, or translation.
AMMECR1 is also known as AMMERC1, MFHIEN.
Associated Diseases
- Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
- Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
