PCDHGC3

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Protocadherin gamma subfamily C, 3
Identifiers
Symbols PCDHGC3 ; PC43; PCDH-GAMMA-C3; PCDH2
External IDs OMIM603627 MGI1935201 HomoloGene31099 GeneCards: PCDHGC3 Gene
Orthologs
Species Human Mouse
Entrez 5098 93706
Ensembl ENSG00000240184 ENSMUSG00000023036
UniProt Q9UN70 Q5DTQ9
RefSeq (mRNA) NM_002588 NM_033581
RefSeq (protein) NP_002579 NP_291059
Location (UCSC) Chr 5:
140.8 – 140.89 Mb
Chr 18:
37.67 – 37.84 Mb
PubMed search [1] [2]

Protocadherin gamma-C3 is a protein that in humans is encoded by the PCDHGC3 gene.[1][2][3]

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.[3]

References[edit]

  1. ^ Lynch ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC (Dec 1997). "Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous". Science 278 (5341): 1315–8. doi:10.1126/science.278.5341.1315. PMID 9360932. 
  2. ^ Sano K, Tanihara H, Heimark RL, Obata S, Davidson M, St John T, Taketani S, Suzuki S (Jul 1993). "Protocadherins: a large family of cadherin-related molecules in central nervous system". EMBO J 12 (6): 2249–56. PMC 413453. PMID 8508762. 
  3. ^ a b "Entrez Gene: PCDHGC3 protocadherin gamma subfamily C, 3". 

Further reading[edit]