The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Function:
Nucleolar component of the spliceosomal ribonucleoprotein complexes.
Subcellular Location:
Nucleus > nucleolus.
Tissue Specificity:
Ubiquitously expressed.
DISEASE:
Defects in RBM28 are the cause of alopecia neurologic defects and endocrinopathy syndrome (ANES) [MIM:612079]. 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 mental retardation, 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.
Similarity:
Contains 4 RRM (RNA recognition motif) domains.
SWISS:
Q9NW13
Gene ID:
55131
Database links:
Entrez Gene: 475203 Dog
Entrez Gene: 100071725 Horse
Entrez Gene: 55131 Human
Entrez Gene: 100338231 Rabbit
Omim: 612074 Human
SwissProt: Q9NW13 Human
Unigene: 274263 Human
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