功能： disease:Defects in LITAF are the cause of Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098]. CMT1C is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT1 group are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.,disease:Defects in LITAF may be involved in extramammary Paget disease (EMPD) carcinogenesis. EMPD is a cancerous disease representing about 8% of all malignant skin cancers; it usually appears in the anogenital area and can be fatal by metastasizing to internal organs when left untreated for a long time. The clinical features are usually those of eczematous eruptions with weeping and crust formation.,domain:The WW-binding motif mediates interaction with WWOX and, probably NEDD4.,function:Probable role in regulating transcription of specific genes. May regulate through NFKB1 the expression of the CCL2/MCP-1 chemokine. May play a role in tumor necrosis factor alpha (TNF-alpha) gene expression.,induction:By lipopolysaccharides (LPS) or TP53/p53. In monocytes by the Bacillus Calmette-Guerin (BCG).,subcellular location:Associated with membranes of lysosomes.,subunit:Interacts with NEDD4 (By similarity). Interacts with WWOX. Isoform 2 may interact with STAT6.,tissue specificity:Ubiquitously and abundantly expressed. Expressed predominantly in the placenta, peripheral blood leukocytes, lymph nodes and spleen.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm . Nucleus . Lysosome membrane ; Peripheral membrane protein ; Cytoplasmic side . Early endosome membrane . Late endosome membrane . Endosome membrane ; Peripheral membrane protein ; Cytoplasmic side . Cell membrane ; Peripheral membrane protein ; Cytoplasmic side . Golgi apparatus membrane . Associated with membranes of lysosomes, early and late endosomes (PubMed:11274176, PubMed:27927196, PubMed:27582497). Can translocate from the cytoplasm into the nucleus (PubMed:15793005). Detected at Schmidt-Lanterman incisures and in nodal regions of myelinating Schwann cells (By similarity). .
组织表达： Ubiquitously and abundantly expressed. Expressed predominantly in the placenta, peripheral blood leukocytes, lymph nodes and spleen.
科研货号： PLA008019
LITAF Polyclonal Antibody
Catalog NoPLA008019
Product information
基因名称： LITAF PIG7 SIMPLE
蛋白名称： Lipopolysaccharide-induced tumor necrosis factor-alpha factor (LPS-induced TNF-alpha factor) (Small integral membrane protein of lysosome/late endosome) (p53-induced gene 7 protein)
功能： disease:Defects in LITAF are the cause of Charcot-Marie-Tooth disease type 1C (CMT1C) [MIM:601098]. CMT1C is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT1 group are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.,disease:Defects in LITAF may be involved in extramammary Paget disease (EMPD) carcinogenesis. EMPD is a cancerous disease representing about 8% of all malignant skin cancers; it usually appears in the anogenital area and can be fatal by metastasizing to internal organs when left untreated for a long time. The clinical features are usually those of eczematous eruptions with weeping and crust formation.,domain:The WW-binding motif mediates interaction with WWOX and, probably NEDD4.,function:Probable role in regulating transcription of specific genes. May regulate through NFKB1 the expression of the CCL2/MCP-1 chemokine. May play a role in tumor necrosis factor alpha (TNF-alpha) gene expression.,induction:By lipopolysaccharides (LPS) or TP53/p53. In monocytes by the Bacillus Calmette-Guerin (BCG).,subcellular location:Associated with membranes of lysosomes.,subunit:Interacts with NEDD4 (By similarity). Interacts with WWOX. Isoform 2 may interact with STAT6.,tissue specificity:Ubiquitously and abundantly expressed. Expressed predominantly in the placenta, peripheral blood leukocytes, lymph nodes and spleen.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm . Nucleus . Lysosome membrane ; Peripheral membrane protein ; Cytoplasmic side . Early endosome membrane . Late endosome membrane . Endosome membrane ; Peripheral membrane protein ; Cytoplasmic side . Cell membrane ; Peripheral membrane protein ; Cytoplasmic side . Golgi apparatus membrane . Associated with membranes of lysosomes, early and late endosomes (PubMed:11274176, PubMed:27927196, PubMed:27582497). Can translocate from the cytoplasm into the nucleus (PubMed:15793005). Detected at Schmidt-Lanterman incisures and in nodal regions of myelinating Schwann cells (By similarity). .
组织表达： Ubiquitously and abundantly expressed. Expressed predominantly in the placenta, peripheral blood leukocytes, lymph nodes and spleen.
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