SPOP

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in the SPOP gene was identified in a male, age 17 with short stature, intellectual disability, heart disease, seizures, low testosterone, episodes of sporadic high and low blood pressure, hypogonadism, slow cognitive function, thrombocytopenia, kidney disease, osteoporosis, and spondyloarthritis (read full description).

Date of Report

Aug 05, 2021

Full Name

speckle type BTB/POZ protein

Location

Chromosome 17 (17q21.33)

Function

The SPOP gene encodes a protein that functions in the ubiquitin ligase complex pathway, which is involved in proteasomal degradation of targeted proteins (Nagai et al., 1997).

Database Links

GeneCards: SPOP

NCBI Gene: 8405

OMIM: 602650

UniProtKB/Swiss-Prot: O43791

Clinical Significance

A de novochange in this gene was identified in a UDN participant.

Gene SPOP

Inheritance Pattern Autosomal dominant

Position (hg19) chr17:g.47700100T>C

Transcript NM_001007226.1

DNA Change c.73A>G

Protein Change p.Thr25Ala

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