Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5092
MIM: 126090
HGNC: 8646
Ensembl: ENSG00000166228
Variants:
dbSNP: 5092
ClinVar: 5092
TCGA: ENSG00000166228
COSMIC: PCBD1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000166228 | ENST00000299299 | P61457 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 24204001 | 2014 | Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. | 30 |
| 24848070 | 2014 | Recessive mutations in PCBD1 cause a new type of early-onset diabetes. | 15 |
| 24204001 | 2014 | Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. | 30 |
| 24848070 | 2014 | Recessive mutations in PCBD1 cause a new type of early-onset diabetes. | 15 |
| 20532202 | 2010 | Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes. | 42 |
| 20532202 | 2010 | Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes. | 42 |
| 19491146 | 2009 | Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. | 43 |
| 19674121 | 2009 | Examination of tetrahydrobiopterin pathway genes in autism. | 7 |
| 19491146 | 2009 | Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. | 43 |
| 19674121 | 2009 | Examination of tetrahydrobiopterin pathway genes in autism. | 7 |
| 16385451 | 2006 | A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. | 83 |
| 16423549 | 2006 | Can the DCoHalpha isozyme compensate in patients with 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH deficiency? | 1 |
| 16385451 | 2006 | A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. | 83 |
| 16423549 | 2006 | Can the DCoHalpha isozyme compensate in patients with 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH deficiency? | 1 |
| 15740590 | 2005 | In vivo and in vitro evidence for autocrine DCoH/HNF-1alpha transcription of albumin in the human epidermis. | 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/case-report-explorer/
