功能： cofactor:Iron.,disease:Defects in FA2H are the cause of leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia (DLDSP) [MIM:612443]. The disorder consists of a progressive neurologic disease manifested by spasticity, disordered tonicity of muscle, and white matter degeneration.,domain:The histidine box domains may contain the active site and/or be involved in metal ion binding.,function:Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids.,induction:Up-regulated during keratinocyte differentiation.,similarity:Belongs to the SCS7 family.,similarity:Contains 1 cytochrome b5 heme-binding domain.,tissue specificity:Detected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and cultured keratinocytes. Highly expressed in brain and colon. Detected at lower levels in testis, prostate, pancreas and kidney.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Endoplasmic reticulum membrane ; Multi-pass membrane protein . Microsome membrane ; Multi-pass membrane protein .
组织表达： Detected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and cultured keratinocytes (PubMed:17355976). Highly expressed in brain and colon. Detected at lower levels in testis, prostate, pancreas and kidney (PubMed:15337768).
功能： cofactor:Iron.,disease:Defects in FA2H are the cause of leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia (DLDSP) [MIM:612443]. The disorder consists of a progressive neurologic disease manifested by spasticity, disordered tonicity of muscle, and white matter degeneration.,domain:The histidine box domains may contain the active site and/or be involved in metal ion binding.,function:Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids.,induction:Up-regulated during keratinocyte differentiation.,similarity:Belongs to the SCS7 family.,similarity:Contains 1 cytochrome b5 heme-binding domain.,tissue specificity:Detected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and cultured keratinocytes. Highly expressed in brain and colon. Detected at lower levels in testis, prostate, pancreas and kidney.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Endoplasmic reticulum membrane ; Multi-pass membrane protein . Microsome membrane ; Multi-pass membrane protein .
组织表达： Detected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and cultured keratinocytes (PubMed:17355976). Highly expressed in brain and colon. Detected at lower levels in testis, prostate, pancreas and kidney (PubMed:15337768).
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