Pancreas Transcription Factor 1, Alpha Subunit

Alternative Names

  • PTF1A
  • PTF1-P48
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OMIM Number

607194

NCBI Gene ID

256297

Uniprot ID

Q7RTS3

Length

1,934 bases

No. of Exons

2

No. of isoforms

1

Protein Name

Pancreas transcription factor 1 subunit alpha

Molecular Mass

34970 Da

Amino Acid Count

328

Genomic Location

chr10:23,192,311-23,194,244

Gene Map Locus
10p12.2

Description

This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_000010.10:g.23508437A>GLebanon; SyriaNC_000010.10:g.23508437A>GPathogenicPancreatic Agenesis 2NC_000010.10:g.23508437A>G
NM_178161.3:c.437_460delSaudi ArabiaNC_000010.11:g.23192967_23192990delPathogenicPathogenicPancreatic and Cerebellar AgenesisNG_009798.1:g.5437_5460del; NM_178161.3:c.437_460del; NP_835455.1:p.Ala146_Arg154delinsGly30651

Other Reports

United Arab Emirates

Deeb et al. (2016) analyzed Neonatal Diabetes Mellitus (NDM) patients and characterized their genetic and clinical features. The authors found 25 cases of NDM in Abu Dhabi between the years 1985-2013, giving an incidence rate of 1:29,241 live births. Of these, 23 were Permanent Neonatal Diabetes Mellitus (PNDM) cases and 2 patients had Transient Neonatal Diabetes Mellitus (TNDM). Genetic analysis of this cohort revealed the deletion of the PTF1A enhancer in two first cousins. Both patients presented with NDM in infancy and pancreatic agenesis on MRI. They required daily insulin administration. 

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