DISEASES

Disease-gene associations mined from literature

Literature associating MADD and Charcot-Marie-Tooth disease type 4E

MADD [ENSP00000310933]

Differentially expressed in normal and neoplastic cells; Plays a significant role in regulating cell proliferation, survival and death through alternative mRNA splicing. Isoform 5 shows increased cell proliferation and isoform 2 shows decreased. Converts GDP-bound inactive form of RAB3A, RAB3C and RAB3D to the GTP-bound active forms. Component of the TNFRSF1A signaling complex: MADD links TNFRSF1A with MAP kinase activation. Plays an important regulatory role in physiological cell death (TNF-alpha-induced, caspase-mediated apoptosis); isoform 1 is susceptible to inducing apoptosis, isoform 5 is resistant and isoform 3 and isoform 4 have no effect; DENN/MADD domain containing

Synonyms:  MADD,  C9J6B0,  C9JLZ9,  C9JM97,  C9K0L0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM