PAX4 gene

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. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008]

Covered on Genetics Home Reference:

• Maturity-onset diabetes of the young

From NCBI Gene:

• Diabetes mellitus, ketosis-prone
• Maturity-onset diabetes of the young type 9
• Diabetes mellitus type 2

Cytogenetic Location: 7q32.1, which is the long (q) arm of chromosome 7 at position 32.1

Molecular Location: base pairs 127,610,292 to 127,618,142 on chromosome 7 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

• KPD
• MODY9