rs1582418143

This variant is located in the HACE1 gene.

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ClinVar annotation

Pathogenic★☆☆☆

1 submitter

Spastic paraplegia-severe developmental delay-epilepsy syndrome

About HACE1

This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016]

View all HACE1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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