Protein Domain : Trafficking protein particle complex subunit 2 IPR006722

Type  Family
Description  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 [ ]. 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) [].
Short Name  Sedlin

1 Child Features

2 Gene Families

230 Genes

1 Ontology Annotations

0 Parent Features

14 Publications

USDA
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