PTF1A

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Pancreas transcription factor 1 subunit alpha is a protein that in humans is encoded by the PTF1A gene.[5][6]

AliasesPTF1A, PACA, PAGEN2, PTF1-p48, bHLHa29, pancreas specific transcription factor, 1a, p48, pancreas associated transcription factor 1a
End23,194,245 bp[1]
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PTF1A
Identifiers
AliasesPTF1A, PACA, PAGEN2, PTF1-p48, bHLHa29, pancreas specific transcription factor, 1a, p48, pancreas associated transcription factor 1a
External IDsOMIM: 607194; MGI: 1328312; HomoloGene: 10304; GeneCards: PTF1A; OMA:PTF1A - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_178161

NM_018809

RefSeq (protein)

NP_835455

NP_061279

Location (UCSC)Chr 10: 23.19 – 23.19 MbChr 2: 19.45 – 19.45 Mb
PubMed search[3][4]
Wikidata
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Function

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 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.[6]

References

Further reading

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