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SHFM1split hand/foot malformation (ectrodactyly) type 1 |
Known also as: ECD; DSS1; SEM1; SHFD1; SHSF1; Shfdg1;
| NCBI Gene ID: | 7979 |
| NCBI Ensembl Id: | ENSG00000127922 |
| MIM Id: (from NCBI OMIM database) | 183600 |
| Species: | Homo sapiens |
| 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] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
References:
| Authors | Title | Journal |
| Marston NJ, Richards WJ, Hughes D, Bertwistle D, Marshall CJ, Ashworth A | Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals. | Mol Cell Biol July 1, 1999 |
| Sone T, Saeki Y, Toh-e A, Yokosawa H | Sem1p is a novel subunit of the 26 S proteasome from Saccharomyces cerevisiae. | J Biol Chem July 2, 2004 |
| Baillat D, Hakimi MA, Naar AM, Shilatifard A, Cooch N, Shiekhattar R | Integrator, a multiprotein mediator of small nuclear RNA processing, associates with the C-terminal repeat of RNA polymerase II. | Cell Oct. 21, 2005 |
Last modification of this entry: Oct. 6, 2010.
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