FAM126A Gene Summary [Human]
The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]
Details
| Type | Processed Transcript |
| Official Symbol | FAM126A |
| Official Name | family with sequence similarity 126 member A [Source:HGNC Symbol;Acc:HGNC:24587] |
| Ensembl ID | ENSG00000122591 |
| Bio databases IDs | |
| Aliases | family with sequence similarity 126 member A, down regulated by Ctnnb1, a |
| Synonyms | DRCTNNB1A, FAM126A, HCC, HLD5, hyccin PI4KA lipid kinase complex subunit 1, RGD1562906 |
| 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 FAM126A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Hyccin
- 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
- prostate cancer
- hypomyelinating leukodystrophy type 5
- periodontitis
- idiopathic scoliosis
- autosomal recessive nonsyndromic mental retardation
- bipolar disorder
role in cell
- expression in
- apoptosis
- invasion by
- proliferation
- migration
- myelination
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
- Plasma Membrane
- cytosol
- neurites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FAM126A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- phosphatidylinositol phosphorylation
- myelination
- protein localization in plasma membrane
Cellular Component
Where in the cell the gene product is active
- cytosol
- neuron projection
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding