2024年12月25日 · PCYT1A (Phosphate Cytidylyltransferase 1A, Choline) is a Protein Coding gene. Diseases associated with PCYT1A include Spondylometaphyseal Dysplasia With Cone …

Choline-phosphate cytidylyltransferase A is an enzyme that in humans is encoded by the PCYT1A gene. [5][6]

2024年6月10日 · This study reveals a novel mechanism by which mutations in PCYT1A contribute to the development of IRDs, shedding light on the interplay between fatty acid metabolism and …

该基因属于胞苷酰转移酶家族，参与磷脂酰胆碱生物合成的调控。 该基因的突变与伴有锥杆营养不良的脊椎骨干骺端发育不良有关。 已发现该基因的可变剪接转录物变体。 [RefSeq 提 …

2018年5月21日 · Here we show that PCYT1A, the rate-limiting enzyme of PC synthesis, is intranuclear and re-locates to the nuclear membrane in response to the need for membrane …

肺癌 (Lung cancer)作为广为人知的常见恶性肿瘤之一,在肿瘤病人生存受限原因中扮演首要角色.非小细胞肺癌 (Non-small cell lung cancer,NSCLC)占比肺癌总数的85%,所占比中大多为非小细 …

De novo phosphatidylcholine synthesis is required for autophagosome membrane formation and maintenance during autophagy. PCYT1A suppresses proliferation and migration via inhibiting …

2025年2月8日 · PCYT1A deficiency disturbs fatty acid metabolism and induces ferroptosis in the mouse retina. Intestinal Phospholipid Disequilibrium Initiates an ER Stress Response That …

2025年2月8日 · Clinical resource with information about PCYT1A, Lipodystrophy, congenital generalized, type 5, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, and …

HGNC Approved Gene Symbol: PCYT1A. Cytogenetic location: 3q29 Genomic coordinates (GRCh38) : 3:196,234,368-196,287,726 (from NCBI) The rate-controlling enzyme in the …