BSCL2 — 카탈로그 9건
Gene BSCL2
NCBI Gene 26580
취급 제조사 2곳
국내 소싱 가능
9건
congenital generalized lipodystrophy type 2Autosomal dominant spastic paraplegia type 17neuronopathy, distal hereditary motor, type 5Chereditary spastic paraplegia 17severe neurodegenerative syndrome with lipodystrophyneuronopathy, distal hereditary motor, type 5ACharcot-Marie-Tooth disease type 2genetic disorder
데이터 출처 · 근거
- NCBI Gene ↗유전자 정보
- Open Targets ↗질환 연관·생물학적 경로
- 대표 논문 (PubMed) Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. · Acta Neuropathol (2013)The ménage à trois of autophagy, lipid droplets and liver disease. · Autophagy (2022)The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation. · Diabetes (2008)
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