Small EDRK-Rich Factor 1A (Telomeric) Proteins (SERF1A)

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The duplication region includes both a telomeric and a centromeric copy of this gene. Deletions of this gene, the telomeric copy, often accompany deletions of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients, and so it is thought that this gene may be a modifier of the SMA phenotype. The function of this protein is not known\; however, it bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene.

• small EDRK-rich factor 1A (SERF1A)
• small EDRK-rich factor 1 (Serf1)
• small EDRK-rich factor 1A (telomeric) (SERF1A)

• 4F5 protein
• FAM2A protein
• H4F5 protein
• m4F5 protein
• Msmac1 protein
• Show all synonym aliases
• SERF1 protein
• SERF1B protein
• SMAM1 protein

SMA modifier 1 , protein 4F5 , small EDRK-rich factor 1 , spinal muscular atrophy-related gene H4F5 , modifier of spinal muscular atrophy candidate 1 , small EDRK-rich factor 1A, telomeric , small EDRK-rich factor 1B (centromeric)