Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene. [5][6] This gene is a member of the paired box (PAX) family of transcription factors which are essential during fetal development. It is required for the development of the ventral vertebral column.

Dec 25, 2024 · PAX1 (Paired Box 1) is a Protein Coding gene. Diseases associated with PAX1 include Otofaciocervical Syndrome 2, With T-Cell Deficiency and Fara Chlupackova Syndrome. An important paralog of this gene is PAX9.

Oct 27, 2022 · Transcription factors play multifaceted roles in embryonic development and diseases. PAX1, a paired-box transcription factor, has been elucidated to play key roles in multiple tissues during embryonic development by extensive studies. Recently, an emerging role of PAX1 in cancers was clarified.

These results identify bi-allelic, loss-of-function PAX1 mutations as the cause of a syndromic form of SCID due to altered thymus development. One Sentence Summary. PAX1 deficiency causes a syndromic form of SCID by altering differentiation of thymic epithelial cells and other pharyngeal pouch tissues. Introduction

We identified PAX1 as a novel disease-causing gene for otofaciocervical syndrome and show that the pooling of DNA from affected individuals can reduce the number of putative disease-causing homozygous variants in consanguineous families.

Jul 25, 2022 · Our findings indicate there can be monoallelic and biallelic disorders associated with PAX1, and further implicate the PSED network in OAVS.

Feb 28, 2020 · These results identify biallelic, loss-of-function PAX1 mutations as the cause of a syndromic form of SCID due to altered thymus development.