PCBD1

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

Pterin-4-alpha-carbinolamine dehydratase is an enzyme that in humans is encoded by the PCBD1 gene.[5][6]

PDBOrtholog search: PDBe RCSB
AliasesPCBD1, DCOH, PCBD, PCD, PHS, pterin-4 alpha-carbinolamine dehydratase 1
Quick facts Available structures, PDB ...
PCBD1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPCBD1, DCOH, PCBD, PCD, PHS, pterin-4 alpha-carbinolamine dehydratase 1
External IDsOMIM: 126090; MGI: 94873; HomoloGene: 57028; GeneCards: PCBD1; OMA:PCBD1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000281
NM_001289797
NM_001323004
NM_001001939

NM_025273

RefSeq (protein)

NP_000272
NP_001276726
NP_001309933

NP_079549

Location (UCSC)Chr 10: 70.88 – 70.89 MbChr 10: 60.93 – 60.93 Mb
PubMed search[3][4]
Wikidata
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Function

This gene encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation. The enzyme regulates the homodimerization of the transcription factor hepatocyte nuclear factor 1 (HNF1).[6]

Clinical significance

Mutations of the PCBD1 gene cause pterin-4 alpha-carbinolamine dehydratase deficiency, one of the forms of tetrahydrobiopterin deficiency.[7]

Interactions

PCBD1 has been shown to interact with DYRK1B[8] and HNF1A.[9][10]

References

Further reading

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