MITF — 카탈로그 51건
Gene MITF
NCBI Gene 4286
국내 소싱 가능
51건
유전자 개요
MITF가 암호화하는 단백질은 기본 헬릭스-루프-헬릭스(basic helix-loop-helix)와 류신 지퍼(leucine zipper) 구조를 모두 갖춘 전사인자(transcription factor)로, 멜라닌세포(melanocyte)의 발달을 조절하고 멜라닌 생성 효소 유전자들의 색소세포 특이적 전사를 담당한다. 이 단백질을 암호화하는 유전자의 이형접합 돌연변이(heterozygous mutation)는 바덴부르크 증후군(Waardenburg syndrome) 2형과 티츠 증후군(Tietz syndrome) 같은 청각-색소 증후군을 유발한다.
Regulation of MITF-M dependent genes involved in invasionRegulation of MITF-M dependent genes involved in metabolismRegulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescenceRegulation of MITF-M-dependent genes involved in apoptosisRegulation of MITF-M-dependent genes involved in cell cycle and proliferationRegulation of MITF-M-dependent genes involved in extracellular matrix, focal adhesion and epithelial-to-mesenchymal transitionRegulation of MITF-M-dependent genes involved in lysosome biogenesis and autophagyRegulation of MITF-M-dependent genes involved in pigmentationSUMOylation of transcription factorsTranscriptional and post-translational regulation of MITF-M expression and activity
Waardenburg syndrome type 2ATietz syndromecoloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafnesscutaneous melanomamelanoma, cutaneous malignant, susceptibility to, 8Waardenburg syndrome type 2cystatin C measurementWaardenburg syndrome
데이터 출처 · 근거
- NCBI Gene ↗유전자 정보
- Open Targets ↗질환 연관·생물학적 경로
- 대표 논문 (PubMed) Melanoma. · N Engl J Med (2006)Pro-survival role of MITF in melanoma. · J Invest Dermatol (2015)Biology of Melanoma. · Hematol Oncol Clin North Am (2021)
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관련 표적
같은 생물학적 경로를 공유하는 표적 — 함께 검토되는 시약군입니다.
SIRT1
Regulation of MITF-M dependent genes involved in metabolism
CEACAM1
Regulation of MITF-M dependent genes involved in invasion
PPARGC1A
Regulation of MITF-M dependent genes involved in metabolism
BRCA1
Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence
TERT
Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence
MCM2
Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence
LIG1
Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence
MCM5
Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence