DPEP1 Summary

The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2012]

DPEP1 Details

Gene Symbol : DPEP1

Gene Name : Dipeptidase 1

Chromosome : CHR 16: 896,133,07-896,415,39

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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