SHFM1

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

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

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

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

• Split hand/foot malformation
• BRCA2
• 26S proteasome
• Homologous recombination

External links

• Online Mendelian Inheritance in Man (OMIM) SHFM1 -183850

• GeneCards: SHFM1
• NCBI Gene: SHFM1