功能： disease:Defects in SPINK5 are the cause of Netherton syndrome (NETH) [MIM:256500]. NETH is an autosomal recessive congenital ichthyosis associated with hair shaft abnormalities and anomalies of the immune system. Typical features are ichthyosis linearis circumflexa, ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), atopic dermatitis, and hayfever. High postnatal mortality is due to failure to thrive, infections and hypernatremic dehydration.,domain:Contains at least one active inhibitory domain for trypsin (domain 6).,function:Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection of mucous epithelia.,online information:SPINK5 mutation db,similarity:Contains 15 Kazal-like domains.,tissue specificity:Highly expressed in the thymus. Also found in the oral mucosa, parathyroid gland, Bartholin's glands, tonsils, and vaginal epithelium. Very low levels are detected in lung, kidney, and prostate.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Secreted.
组织表达： Highly expressed in the thymus and stratum corneum. Also found in the oral mucosa, parathyroid gland, Bartholin's glands, tonsils, and vaginal epithelium. Very low levels are detected in lung, kidney, and prostate.
功能： disease:Defects in SPINK5 are the cause of Netherton syndrome (NETH) [MIM:256500]. NETH is an autosomal recessive congenital ichthyosis associated with hair shaft abnormalities and anomalies of the immune system. Typical features are ichthyosis linearis circumflexa, ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), atopic dermatitis, and hayfever. High postnatal mortality is due to failure to thrive, infections and hypernatremic dehydration.,domain:Contains at least one active inhibitory domain for trypsin (domain 6).,function:Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection of mucous epithelia.,online information:SPINK5 mutation db,similarity:Contains 15 Kazal-like domains.,tissue specificity:Highly expressed in the thymus. Also found in the oral mucosa, parathyroid gland, Bartholin's glands, tonsils, and vaginal epithelium. Very low levels are detected in lung, kidney, and prostate.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Secreted.
组织表达： Highly expressed in the thymus and stratum corneum. Also found in the oral mucosa, parathyroid gland, Bartholin's glands, tonsils, and vaginal epithelium. Very low levels are detected in lung, kidney, and prostate.
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