Symbol: Name: ID: |
SHFM1 split hand/foot malformation (ectrodactyly) type 1 GFS:758 |
Gene name: | SHFM1 |
Chromosome: | 7q21.3 |
Previous Symbols: | SHFD1 |
Previous Names: | |
Aliases: | DSS1, Shfdg1, ECD, SEM1, SHSF1 |
Name Aliases: | deleted in split-hand/foot 1 |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:109238 | Rat Genome Database ID: | RGD:1590628 |
HGNC ID: | HGNC:10845 | RefSeq IDs: | NM_006304 |
Entrez Gene ID: | 7979 | Ensembl Gene ID: | ENSG00000127922 |
VEGA IDs: | OTTHUMG00000150680 | UniProt ID: | P60896 |
UCSC ID: | uc003uoi.2 | OMIM ID: | 183600 |
Pubmed: | PMID1895319 PMID 8733122 | ||
CCDS IDs: | CCDSCCDS5646.1 |
26S proteasome complex subunit DSS1 is a protein that in humans is encoded by the SHFM1 gene. 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. [provided by RefSeq]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Subunit of the 26S proteasome which plays a role in ubiquitin-dependent proteolysis.
Products for SHFM1 gene
Catalog | Product Name | Application | Company |
GFS:E00758 | split hand/foot malformation (ectrodactyly) type 1; ELISA kit | ELISA | n/a |
GFS:A00758 | split hand/foot malformation (ectrodactyly) type 1; Anti | ANTIBODIES | n/a |
GFS:P00758 | split hand/foot malformation (ectrodactyly) type 1; Protien | Protien | n/a |