Alt. symbols: HUP48 | OFC2

Approved name: paired box 1
Alt. names: paired box gene 1

Location: 20p11.22: 21705659 - 21718481 (+)
Gene type: protein_coding, 4 transcripts.

Scores: LoFtool: 0.182000 | pLI: 0.61608403 | LOEUF: 0.498

HGNC: 8615

NCBI: 5075, RefSeq: NG_047065.1

Ensembl: ENSG00000125813.15

LRG_ | Status: none

OMIM: 167411

Expression | ProteinAtlas

PAX1 is a highly conserved transcription factor belonging to the family of PAX transcription factors. PAX1 is essential for the development of multiple tissues during embryogenesis, such as thymus, vertebral column, chondrogenic differentiation and chondrocyte maturation.

According to its function in the axial skeleton and thymus development, PAX1 loss of function variants were identified in the autosomal recessive syndrome otofaciocervical syndrome-2 with T-cell deficiency (OTFCS2, MIM#615560). It is a rare disorder characterized by facial and skeletal anomalies and mild intellectual disability; some patients exhibit altered thymus development with T-cell immunodeficiency and recurrent, sometimes fatal, infections. A homozygous PAX1 mutation in one patient is a ssociated with hypoparathyroidism (PMID: 37197558). In the last decade, PAX1 has emerged as a tumour suppressor in various human cancers, such as cervical cancer, ovarian cancer, colorectal carcinoma, parathyroid tumour, and oral squamous cell carcinoma. Consistent with its role in developing multiple tissues, when being dysregulated, PAX1 might regulate cell proliferation and differentiation of specific cancer cells, thus contributing to the activation or suppression of cancer development in specific tissue contexts. [Load More]