PSTPIP1
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_003978.2 Gene Symbol PSTPIP1
Protein Name Proline-serine-threonine phosphatase interacting protein 1
Alternate Names CD2BP1, CD2BP1L, CD2BP1S, H-PIP, PAPAS, PSTPIP
Gene Locus 15q24-q25.1

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
- 05891 606347 9051 NetPath_M9051 9051 2DIL
 9580 ENSG00000140368 O43586 PSTPIP1

Disease name Characteristic / Associated features Category inheritance type
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome Inflammatory skin rash, myositis; pyogenic arthritis; pyoderma gangrenosum; cystic acne; adult-onset insulin-dependent diabetes mellitus; proteinuria; irritable bowel syndrome; sterile abscesses at site of parenteral injection Autoinflammatory Disorders Autosomal dominant