Acd - adrenocortical dysplasia Gene
Species: Mus musculus
Summary
Enables telomeric DNA binding activity. Involved in protection from non-homologous end joining at telomere. Acts upstream of or within several processes, including embryonic limb morphogenesis; segmentation; and skeletal system development. Located in chromosome, telomeric region. Part of nuclear telomere cap complex. Is expressed in several structures, including adrenal gland; genitourinary system; liver; neural tube; and spleen. Human ortholog(s) of this gene implicated in autosomal dominant dyskeratosis congenita 6. Orthologous to human ACD (ACD shelterin complex subunit and Telomerase recruitment factor). [provided by Alliance of Genome Resources, Apr 2022]
Acd Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001012638.2 | NP_001012656.1 | adrenocortical dysplasia protein isoform 1 |
| NM_001348349.1 | NP_001335278.1 | adrenocortical dysplasia protein isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17053789 | MGI |
| enables telomeric DNA binding |
IDA
IDA: Inferred from direct assay
|
23685356 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within embryonic limb morphogenesis |
IMP
IMP: Inferred from mutant phenotype
|
15537664 | MGI |
| involved in protection from non-homologous end joining at telomere |
IMP
IMP: Inferred from mutant phenotype
|
18185984 | MGI |
| acts upstream of or within segmentation |
IMP
IMP: Inferred from mutant phenotype
|
15537664 | MGI |
| acts upstream of or within skeletal system development |
IMP
IMP: Inferred from mutant phenotype
|
15537664 | MGI |
| involved in telomere capping |
IMP
IMP: Inferred from mutant phenotype
|
17632522 | MGI |
| acts upstream of or within urogenital system development |
IMP
IMP: Inferred from mutant phenotype
|
15537664 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in chromosome, telomeric region |
IDA
IDA: Inferred from direct assay
|
23685356 | MGI |
| part of nuclear telomere cap complex |
IDA
IDA: Inferred from direct assay
|
18185984 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
adrenocortical dysplasia protein |
|