PAX9 gene

paired box 9

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. Mice lacking this gene exhibit impaired development of organs, musculature and the skeleton, including absent and abnormally developed teeth, and neonatal lethality. Mutations in the human gene are associated with selective tooth agenesis-3. [provided by RefSeq, Sep 2015]

From UniProt:

Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs.

From NCBI Gene:

  • Tooth agenesis, selective, 3

From UniProt:

Tooth agenesis, selective, 3 (STHAG3): A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). [MIM:604625]

Cytogenetic Location: 14q13.3, which is the long (q) arm of chromosome 14 at position 13.3

Molecular Location: base pairs 36,657,568 to 36,677,807 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q13.3, which is the long (q) arm of chromosome 14 at position 13.3
  • STHAG3