InterPro domain: IPR006722

Trafficking protein particle complex subunit 2, also known as Sedlin, is a 140 amino-acid protein with a putative role in endoplasmic reticulum-to-Golgi transport [ 1 ]. Several missense mutations and deletion mutations in the SEDL gene, which result in protein truncation by frame shift, are responsible for spondyloepiphyseal dysplasia tarda, a progressive skeletal disorder (OMIM:313400) [ 2 ].

1. SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1. PLoS ONE 5, e10646
2. The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am. J. Hum. Genet. 68, 1386-97