EBP
Function
Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers.
Involvement in disease
Chondrodysplasia punctata 2, X-linked dominant
CDPX2
A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues.
None
The disease is caused by variants affecting the gene represented in this entry.
MEND syndrome
MEND
An X-linked recessive disorder associated with a defect in sterol biosynthesis. Disease manifestations and severity are highly variable. Clinical features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Steroid biosynthesis; cholesterol biosynthesis.
Sequence Similarities
Belongs to the EBP family.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
- Nucleus envelope
- Cytoplasmic vesicle
- During interphase, detected on the endoplasmic reticulum and the nuclear envelope. During mitosis, detected on cytoplasmic vesicles.
Alternative names
Cholestenol Delta-isomerase, Delta(8)-Delta(7) sterol isomerase, Emopamil-binding protein, D8-D7 sterol isomerase, EBP