Viral Details

Viral Backbone

Recombinant AAV

AAV-ITR

AAV2

AAV Serotype

Available in AAV1, AAV2, AAV3, AAV5, AAV6, AAV8, AAV9, AAV-DJ, AAV-DJ8, AAV-DJ9 and other wildtype/synthetic AAV capsids

Promoter

CMV (default), or choose from 30 different ubiquitous or cell specific promoter

Reporter

none, optional GFP, CFP, YFP, RFP or mCherry

Storage Buffer

PBS/5% Glycerol

Gene Details

Species

Human

Gene Symbol

PCBD1

Gene Name

pterin-4 alpha-carbinolamine dehydratase 1

Gene ID

5092

Gene Synonyms

DCOH; PCBD; PCD; PHS

ORF Size

315 bp

RefSeq#

BC006324

Gene Description

PCBD1 encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation. A deficiency of this enzyme leads to hyperphenylalaninemia. The enzyme regulates the homodimerization of the transcription factor hepatocyte nuclear factor 1 (HNF1).

UniGene ID

Hs.3192

HGNC ID

HGNC:8646