RPL21
Function
Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688).
Involvement in disease
Hypotrichosis 12
HYPT12
A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT12 patients have normal scalp hair density at birth. Hair loss begins during the first 6 months of life and gradually progresses to nearly complete loss of scalp hair. The remaining hairs grow slowly and are thin, sparse, dry, and fragile. Body hair, axillary and pubic hair, eyebrows and eyelashes are also sparse or absent. HYPT12 inheritance is autosomal dominant.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the eukaryotic ribosomal protein eL21 family.
Cellular localization
- Cytoplasm
- Cytosol
- Cytoplasm
- Endoplasmic reticulum
- Detected on cytosolic polysomes (PubMed:25957688). Detected in ribosomes that are associated with the rough endoplasmic reticulum (By similarity).
Alternative names
Large ribosomal subunit protein eL21, 60S ribosomal protein L21, RPL21