CHMP4B
MIM.610897 20q11.21
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#