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)
17_49598883-49678162_v2.png

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: GC17M049598

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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