PCBD1 (pterin-4 alpha-carbinolamine dehydratase 1)

2014-11-01  

Identity

HGNC
LOCATION
10q22.1
LOCUSID
ALIAS
DCOH,PCBD,PCD,PHS

Other Information

Locus ID:

NCBI: 5092
MIM: 126090
HGNC: 8646
Ensembl: ENSG00000166228

Variants:

dbSNP: 5092
ClinVar: 5092
TCGA: ENSG00000166228
COSMIC: PCBD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166228ENST00000299299P61457

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Phenylalanine and tyrosine catabolismREACTOMER-HSA-71182
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolismREACTOMER-HSA-6788656

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
194911462009Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.35
205322022010Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes.34
90926521997The bifunctional DCOH protein binds to HNF1 independently of its 4-alpha-carbinolamine dehydratase activity.13
242040012014Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.13
248480702014Recessive mutations in PCBD1 cause a new type of early-onset diabetes.9
196741212009Examination of tetrahydrobiopterin pathway genes in autism.6
125659072003In situ and in vitro evidence for DCoH/HNF-1 alpha transcription of tyrosinase in human skin melanocytes.4
116686232001Studies of the variability of the hepatocyte nuclear factor-1beta (HNF-1beta / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and beta-cell function.1
116686232001Studies of the variability of the hepatocyte nuclear factor-1beta (HNF-1beta / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and beta-cell function.1

Citation

Dessen P

PCBD1 (pterin-4 alpha-carbinolamine dehydratase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71688/pcbd1