Gene: SMIM27

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: TOPORS

Alternate names for this Gene: LUN|P53BP3|RP31|TP53BPL

Gene Summary: This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus.

Gene is located in Chromosome: 9

Location in Chromosome : 9p21.1

Description of this Gene: TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

Type of Gene: protein-coding

rs628425 in SMIM27;TOPORS gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.