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CHMP4B

MIM.610897 20q11.21

Monday 15 October 2007

CHMP4B belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMPs) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions.

CHMP1A (MIM.164010) is required for both MVB formation and regulation of cell cycle progression

Pathology

- CHMP4B germline muitations in autosomal dominant cataracts (17701905)

See also

- CHMPs

References

- Shiels A, Bennett TM, Knopf HL, Yamada K, Yoshiura K, Niikawa N, Shim S, Hanson PI. CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Am J Hum Genet. 2007 Sep;81(3):596-606. PMID: 17701905