As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). Involved in the cytoskeletal anchoring of DLG4 in excitatory synapses (By similarity).
Rothmund-Thomson syndrome 3
RTS3
A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. RTS3 is an autosomal recessive form. RTS3 patients also exhibit microcephaly, with moderate to severe neurodevelopmental delay and seizures.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the CRIPT family.
HSPC139, CRIPT, Cysteine-rich PDZ-binding protein, Cysteine-rich interactor of PDZ three, Cysteine-rich interactor of PDZ3
Proteins
Neuroscience
11216Da
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