AB VARIANT GANGLIOSIDOSIS GM2
\ˌe͡ɪbˈiː vˈe͡əɹi͡ənt ɡˌaŋɡlɪˌɒsɪdˈə͡ʊsɪs d͡ʒˌiːˈɛm tˈuː], \ˌeɪbˈiː vˈeəɹiənt ɡˌaŋɡlɪˌɒsɪdˈəʊsɪs dʒˌiːˈɛm tˈuː], \ˌeɪ_b_ˈiː v_ˈeə_ɹ_iə_n_t ɡ_ˌa_ŋ_ɡ_l_ɪ__ˌɒ_s_ɪ_d_ˈəʊ_s_ɪ_s dʒ_ˌiː__ˈɛ_m t_ˈuː]\
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Inherited diseases characterized by the accumulation of G (M2) GANGLIOSIDE in central nervous system lysosomes and variably in other tissues. Subtypes include TAY-SACHS DISEASE and SANDHOFF DISEASE, as well as an AB variant of BETA-N-ACETYLHEXOSAMINIDASE deficiency and an adult onset form of GM2 Gangliosidosis.
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Proto Oncogene Proteins c erbB 2
- cell surface protein-tyrosine kinase that is found to be overexpressed in significant number adenocarcinomas. It has extensive homology can heterodimerize EGF EPIDERMAL GROWTH FACTOR), 3 receptor (RECEPTOR, 3) and the 4 receptor. Activation of erbB-2 receptor occurs during heterodimer formation with a ligand-bound erbB family members. EC 2.7.11.-.
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