FAM199X
Description
The FAM199X (family with sequence similarity 199, X-linked) is a protein-coding gene located on chromosome X.
FAM199X is also known as CXorf39.
Associated Diseases
- 15q11q13 microduplication syndrome
- isolated asymptomatic elevation of creatine phosphokinase
- pentosuria
- myopathy due to calsequestrin and SERCA1 protein overload
- metabolic myopathy due to lactate transporter defect
- 46,XX ovotesticular disorder of sex development
- 46,XY complete gonadal dysgenesis
- type 1 diabetes mellitus
