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5626 PROP1

5626

PROP1

PROP paired-like homeobox 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition PROP paired-like homeobox 1

研究结论

Date Results Publications
2019-07-20 11:25:00 A summary of phenotypes in patients with combined pituitary hormone deficiency caused by PROP1 mutations (Review). 31090814
2018-07-07 11:26:00 PROP1 mutations are a prevalent cause of congenital CPHD with OPP, and therefore, PROP1 sequencing must be the first step of molecular investigation in patients with CPHD and OPP, especially in populations with a high frequency of PROP1 mutations. 28734020
2018-05-19 11:27:00 Deletion in the PROP1 gene is associated with Combined pituitary hormone deficiency. 28356564
2017-11-11 12:37:00 The anterior pituitary gland comprised specialized cell-types that arise from stem cells expressing SOX2 and PROP1, which is necessary to establish the stem cell pool and promote an epithelial to mesenchymal-like transition, releasing progenitors from the niche. [review] 27650955
2017-04-08 11:39:00 GH replacement successfully corrects the growth deficit in children with Growth Hormone Deficiency . While the genetic aetiology remains undefined in most cases of Isolated Growth Hormone Deficiency , PROP1 mutations constitute a major cause for Multiple Pituitary Hormone Deficiencies. Persistence of Growth Hormone Deficiency into adulthood is related to abnormal pituitary morphology. 27487097

名称对应

Type IDs
Synonymous CPHD2, PROP-1
Gene
UniProtKB-ID: PROP1_HUMAN, A0A0G2JQ02_HUMAN
UniprotKB: O75360, A0A0G2JQ02
UniParc: UPI00001321A9, UPI00001AEEA4
EMBL: BC069076, AF076214, AF076215, AC136940, AF041141, AF041140, CH471390, AF041139, AC236592
Ensembl: ENSG00000274382, ENSG00000175325
KO: hsa:5626
Nucleutide sequences
EMBL-CDS: AAC77454.1, AAH69076.1, AAC77453.1, AAC27900.1, EAW50395.1
Gene_ORFName: hCG_40268
Ensembl_TRS: ENST00000308304, ENST00000614006
Protein sequencees
Ensembl_PRO: ENSP00000311290, ENSP00000484677
RefSeq: NP_006252.4
Others
UniRef100: UniRef100_A0A0G2JQ02, UniRef100_O75360
UniRef90: UniRef90_O75360
UniRef50: UniRef50_O75360
UniGene: Hs.158301
CCDS: CCDS4430.1

全选

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研究热度

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