PCDHGA1 - protocadherin gamma subfamily A, 1 Gene
Also Known as PCDH-GAMMA-A1
Species: Homo sapiens
About PCDHGA1
This gene has 2 transcripts (splice variants), 23 orthologues and 61 paralogues.
Summary
This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 Cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
PCDHGA1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_018912.3 | NP_061735.1 | protocadherin gamma-A1 isoform 1 precursor |
| NM_031993.2 | NP_114382.1 | protocadherin gamma-A1 isoform 2 precursor |
PCDHGA1 Protein Structure
Cadherin_2: Cadherin-like (30 - 112)
Cadherin: Cadherin domain (140 - 232)
Cadherin: Cadherin domain (247 - 338)
Cadherin: Cadherin domain (354 - 442)
Cadherin: Cadherin domain (457 - 549)
Cadherin: Cadherin domain (583 - 664)
- 0
- 200
- 400
- 600
- 800
- 931 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
protocadherin gamma-A1 |
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Related Diseases
| Diseases | Alias | |
|---|---|---|
| Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies |
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| Developmental And Epileptic Encephalopathy 9 |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | PCDHGA1 | MGD | MGI:1935212 |
| Rattus norvegicus | PCDHGA1 | RGD | RGD:1590761 |