InterProInterPro Protein Domain record

Sedlin
http://metadb.riken.jp/db/SciNetS_rib124i/crib124s1rib124u6722i

Sedlin

InterPro Protein Domain record

description
  • <p> 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). [<cite idref="PUB00008512"/>].</p>
label
  • Sedlin
attributionURL
signatures_SMART
type
seeAlso
children
contains
PDB_structure
Os_RAPDB_Locus
Pfam-A