SHFM1
| Symbol | SHFM1 |
|---|---|
| HGNC ID | 10833 |
| Alternative symbols | DSS1 |
| Entrez Gene | 7979 |
| OMIM | 183850 |
| RefSeq | NM_003026 |
| UniProt | Q9Y3A5 |
| Chromosome | 7q21.3 |
| Locus supplementary data |
SHFM1 (Split hand/foot malformation type 1), also known as DSS1 (26S proteasome complex subunit DSS1), is a protein-coding gene in humans. It encodes a small protein involved in several cellular processes including limb development, proteasome function, and DNA repair.
Function[edit]
The SHFM1 gene is located on chromosome 7 at the locus 7q21.3, a region associated with split hand/foot malformation type 1 (SHFM1), a congenital limb malformation disorder. The protein product, DSS1, is a conserved subunit of the 26S proteasome complex and is implicated in the degradation of ubiquitinated proteins.
SHFM1 is also known to interact with the tumor suppressor protein BRCA2, indicating a potential role in DNA repair, particularly in homologous recombination. Moreover, it may be involved in cell cycle regulation and completion.
Clinical significance[edit]
SHFM1 is considered a candidate gene for the autosomal dominant form of split hand/foot malformation (SHFM), a condition characterized by the absence or underdevelopment of central digits of the hands and feet. Mutations or deletions in the SHFM1 locus may contribute to the phenotypic manifestations of SHFM type 1.
Interactions[edit]
The SHFM1 protein has been shown to directly interact with:
- BRCA2 – a key player in DNA double-strand break repair via homologous recombination.
This interaction supports the role of SHFM1 in maintaining genome stability.
See also[edit]
External links[edit]
