PAX1

Chr 20

paired box 1

Also known as: HUP48, OFC2, OTFCS2

NCBI Gene: 5075 ENSG00000125813 UniProt: P15863

PAX1 encodes a transcription factor that activates gene expression and is essential for vertebral column development and formation of segmented embryonic structures. Mutations cause otofaciocervical syndrome 2 with T-cell deficiency, which involves vertebral malformations and immune deficiency, inherited in an autosomal recessive pattern. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.498), consistent with its critical developmental role.

ResearchSummary from RefSeq, OMIM, UniProt

This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtOtofaciocervical syndrome 2, with T-cell deficiency

Clinical highlights

Gene-disease validity (ClinGen)

otofaciocervical syndrome 2 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.50

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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