RBM28 gene

RNA binding motif protein 28

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Nucleolar component of the spliceosomal ribonucleoprotein complexes.

From NCBI Gene:

  • Alopecia, neurologic defects, and endocrinopathy syndrome

From UniProt:

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 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. [MIM:612079]

Cytogenetic Location: 7q32.1, which is the long (q) arm of chromosome 7 at position 32.1

Molecular Location: base pairs 128,304,120 to 128,343,915 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7q32.1, which is the long (q) arm of chromosome 7 at position 32.1