Anonymous ID: 686f71 Jan. 14, 2018, 12:13 p.m. No.49168   🗄️.is 🔗kun   >>9184 >>9239

>>49143

>https:// www.ncbi.nlm.nih.gov/gene?term=8239

>Summary

This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

 

>>Turner syndrome (TS), also known as 45,X or 45,X0, is a condition in which a female is partly or completely missing an X chromosome.[2] Signs and symptoms vary among those affected.[1] Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth.[1] Typically, they develop menstrual periods and breasts only with hormone treatment, and are unable to have children without reproductive technology.[1] Heart defects, diabetes, and low thyroid hormone occur more frequently.[1] Most people with TS have normal intelligence.[1] Many, however, have troubles with spatial visualization that may be needed for mathematics.[1] Vision and hearing problems occur more often.[5]