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The protein encoded by this gene is thought to be part of a large multi-subunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind c-myc promoter-binding protein 1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseudogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants have been found for this gene.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: MBP-1-interacting protein 2A; MIP-2A; Sedlin; Trafficking protein particle complex subunit 2; Trafficking protein particle complex subunit 2B
基因别名: hYP38334; MIP2A; SEDL; SEDLP1; SEDT; TRAPPC2; TRAPPC2.19; TRAPPC2B; TRAPPC2P1; TRS20; ZNF547L
UniProt ID: (Human) P0DI81
Entrez Gene ID: (Human) 6399