CHDH Gene Summary [Human]
The protein encoded by this gene is a choline dehydrogenase that localizes to the mitochondrion. Variations in this gene can affect susceptibility to choline deficiency. A few transcript variants have been found for this gene, but the full-length nature of only one has been characterized to date. [provided by RefSeq, Dec 2010]
Details
| Type | Protein Coding |
| Official Symbol | CHDH |
| Official Name | choline dehydrogenase [Source:HGNC Symbol;Acc:HGNC:24288] |
| Ensembl ID | ENSG00000016391 |
| Bio databases IDs | |
| Aliases | choline dehydrogenase |
| Synonyms | CDH, CHD, choline dehydrogenase, D630034H06Rik |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CHDH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GMC oxidoreductase
- Rossmann-fold NAD(P)(+)-binding proteins
- choline dehydrogenase
- dehydrogenase, Rv0697 family
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- renal clear cell adenocarcinoma
- renal clear cell cancer
- refractive error
- cardiovascular disorder
regulates
- choline
- betaine
role in cell
- accumulation in
- function
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CHDH gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- choline catabolic process
- glycine betaine biosynthetic process from choline
Cellular Component
Where in the cell the gene product is active
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- flavin adenine dinucleotide binding
- choline dehydrogenase activity