CHMP1A Summary

This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

CHMP1A Details

Gene Symbol : CHMP1A

Gene Name : Charged multivesicular body protein 1A

Chromosome : CHR 16: 896,577,84-896,444,30

Locus : 16q24.3

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ANKRD11 Summary

This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012]

ANKRD11 Details

Gene Symbol : ANKRD11

Gene Name : Ankyrin repeat domain 11

Chromosome : CHR 16: 894,905,60-892,676,18

Locus : 16q24.3

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