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Protein Domain : Protocadherin-19

Primary Identifier  IPR030716 Type  Family
Short Name  Protocadherin-19
description  Protocadherin-19 (Pcdh19) belongs to the delta-2 subfamily of nonclustered protocadherins. The non-clustered PCDHs appear to have homophilic/heterophilc cell-cell adhesion properties [], and the delta-2 subfamily (comprising protocadherin-8, -10, -17, -18, and -19) is widely expressed in the nervous system [, ]. Pcdh19 is highly expressed during brain development, and could play significant roles in neuronal migration or establishment of synaptic connections. Pcdh19 mutations cause an unusual X-linked inheritance disorder resulting in epilepsy and mental retardation [, , ].The cadherin family consists of a large group of cell adhesion proteins. It can be classified into three subfamilies: classical cadherins, desmosomal cadherins and protocadherins (PCDHs). Based on the genomic structure, the PCDH family can be divided into two groups, clustered PCDHs and non-clustered PCDHs. Non-clustered PCDHs can be further classified into three subgroups: delta1 (PCDH1, PCDH7, PCDH9, PCDH11 and PCDH20), delta2 (PCDH8, PCDH10, PCDH12, PCDH17, PCDH18 and PCDH19) and epsilon (PCDH15, PCDH16, PCDH21 and MUCDHL). Non-clustered PCDHs are expressed predominantly in the nervous system and have spatiotemporally diverse expression patterns [].

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4 Protein Domain Regions