-
功能
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.
-
组织特异性
Ubiquitously and abundantly expressed. Expressed predominantly in the placenta, peripheral blood leukocytes, lymph nodes and spleen.
-
疾病相关
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.
Note=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.
-
结构域
The WW-binding motif mediates interaction with WWOX and, probably NEDD4.
-
细胞定位
Lysosome membrane. Associated with membranes of lysosomes.
-
Information by UniProt
-
数据库链接
-
别名
- Lipopolysaccharide induced TNF alpha factor antibody
- CMT1C antibody
- FLJ38636 antibody
- Lipopolysaccharide induced TNF alpha factor antibody
- Lipopolysaccharide induced TNF factor antibody
- Lipopolysaccharide induced tumor necrosis factor alpha factor antibody
- Lipopolysaccharide-induced tumor necrosis factor-alpha factor antibody
- LITAF antibody
- LITAF_HUMAN antibody
- LPS induced TNF alpha factor antibody
- LPS-induced TNF-alpha factor antibody
- MGC116698 antibody
- MGC116700 antibody
- MGC116701 antibody
- MGC125274 antibody
- MGC125275 antibody
- MGC125276 antibody
- p53 induced gene 7 protein antibody
- p53-induced gene 7 protein antibody
- PIG 7 antibody
- PIG7 antibody
- SIMPLE antibody
- Small integral membrane protein of lysosome/late endosome antibody
- TP53I7 antibody
- Tumor protein p53 inducible protein 7 antibody
see all