Gene: SEM1

Alternate names for this Gene: C7orf76|DSS1|ECD|SHFD1|SHFM1|SHSF1|Shfdg1

Gene Summary: The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle.

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.3

Description of this Gene: SEM1 26S proteasome complex subunit

Type of Gene: protein-coding

rs10464592 in SEM1 gene and Bone Density PMID 19801982 2009 Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.

PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

rs150691387 in SEM1 gene and Platinum measurement PMID 31296530 2019 Clinical and Genome-Wide Analysis of Serum Platinum Levels after Cisplatin-Based Chemotherapy.