ROBLD3
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_014017.1 Gene Symbol ROBLD3
Protein Name late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
Alternate Names HSPC003, RP11-336K24.9, p14, MAPBPIP, LAMTOR2
Gene Locus 1q22

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
161 17463 610389 28956 -
 29796 ENSG00000116586 Q9Y2Q5 ROBLD3

Disease name Characteristic / Associated features Category inheritance type
Endosomal adaptor protein p14 deficiency Short stature; hypopigmentation of the skin; coarse facial features; Hypogammaglobulinemia; low peripheral neutrophil counts; neutrophil maturation in bone marrow intact; recurrent bronchopulmonary infections; neutropenia; decreased IgG; Decreased cytotoxic activity of CD8+ T cells; partial albinism; growth failure; increased total number of CD19+ B cells; increased percentage of naive IgD+ IgM+ CD27- B cells; decreased percentage of IgD+ IgM+ CD27+ memory B cells; decreased IgM; low IgG in adolescence Congenital defects of Phagocyte number, function or both Autosomal recessive