Involvement in diseaseDefects in SEPSECS are the cause of pontocerebellar hypoplasia type 2D (PCH2D) [MIM:613811]. PCH2D is a disorder characterized by postnatal onset of progressive atrophy of the cerebrum and cerebellum, microcephaly, profound mental retardation, spasticity, and variable seizures.
Sequence similaritiesBelongs to the SepSecS family.
Immunohistochemistry (Formalin/PFA-fixed paraffin-embedded sections) analysis of human kidney tissue labelling Soluble Liver/Pancreas Antigen with ab56033 at 4-8µg/ml. Arrows indicate positively labelled epithelial cells of the renal tubule. Magnification: 400X.
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