RBM28
Function
Nucleolar component of the spliceosomal ribonucleoprotein complexes.
Involvement in disease
Alopecia, neurologic defects, and endocrinopathy syndrome
ANES
Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe intellectual disability, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Ubiquitously expressed.
Cellular localization
- Nucleus
- Nucleolus
Alternative names
RNA-binding protein 28, RNA-binding motif protein 28, RBM28