Adracalin  단백질

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Adracalin 관련 경로

Adracalin 요약 및 단백질 정보

Adracalin 배경

조직 특이성: Widely expressed. Particularly abundant expression is found in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung.
질병과의 관련성: Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]: An autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present. Note=The disease is caused by mutations affecting the gene represented in this entry.
염기서열 유사성: Contains 4 WD repeats.
General information above from UniProt

Adracalin 대체 이름

AAA,GL003,ADRACALA,D030041N15Rik, [mus-musculus]

Adracalin 관련 연구

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