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SARA2

MIM.607690 5q31.1

SARA2 belongs to the Sar1-ADP-ribosylation factor family of small GTPases, which govern the intracellular trafficking of proteins in coat protein (COP)-coated vesicles.

Pathology

- germline mutations in Anderson disease (MIM.607689) or chylomicron retention disease (CMRD) (MIM.246700)
- germline mutations in Marinesco-Sjogren syndrome (MIM.248800)

NB: No mutations in SARA1 have been found in families with chylomicron retention disease (MIM.246700), Anderson disease (MIM.607689), or chylomicron retention disease with Marinesco-Sjogren syndrome (MIM.607692).

See also

- SARAs

References

- Shoulders CC, Stephens DJ, Jones B. The intracellular transport of chylomicrons requires the small GTPase, Sar1b. Curr Opin Lipidol. 2004 Apr;15(2):191-7. PMID: #15017362#