Disease-gene associations mined from literature

Literature associating IST1 and MASA syndrome

IST1 [ENSP00000438399]

Increased sodium tolerance 1 homolog (yeast); ESCRT-III-like protein involved in specific functions of the ESCRT machinery. Is required for efficient abscission during cytokinesis, but not for HIV-1 budding. The involvement in the MVB pathway is not established. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells. During late anaphase, involved in nuclear envelope reassembly and mitotic spindle disassembly together with the ESCRT-III complex: IST1 acts by mediating the recruitment of SPAST to the nuclear membrane, leading to microtubule severing. Regulates early endosomal tubulation together with the ESCRT-III complex by mediating the recruitment of SPAST; ESCRT-III associated factors

Synonyms:  IST1,  IST1p,  hIST1,  B4DLP1,  B4DXC9 ...

Linkouts:  STRING  Pharos  UniProt