small EDRK-rich factor 1B

FAM2B

H4F5C

small EDRK-rich factor 1B (centromeric)

Small EDRK-rich factor 1

Protein 4F5

SMA modifier 1

h4F5

Small EDRK-rich factor 1/2-like, N-terminal

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. This gene is the centromeric copy which is identical to the telomeric copy. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. The gene encodes a protein of unknown function which 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. [provided by RefSeq, Jul 2008].

Varaico: Literature-Extracted Genetic Variants

SERF1B

RefSeq Summary

Pfam Domains

Gene Aliases

HGNC Name

HGNC Alias Symbols