LTV1
Function
Essential for ribosome biogenesis.
Involvement in disease
Inflammatory poikiloderma with hair abnormalities and acral keratoses
IPHAK
An autosomal recessive disorder characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the LTV1 family.
Tissue Specificity
Expressed in the epidermis.
Cellular localization
- Cytoplasm
- The protein is expressed in a diffuse cytoplasmic pattern with granular perinuclear accentuation within the basal keratinocytes.
Alternative names
C6orf93, LTV1, Protein LTV1 homolog