Domain

Dynein axonemal assembly factor 4, CS domain (IPR037894)

Short name: CS_DYX1C1

Overlapping homologous superfamilies

Domain relationships

  • CS domain (IPR007052)
    • Dynein axonemal assembly factor 4, CS domain (IPR037894)

Description

This entry represents the CS p23-like domain found in dyslexia susceptibility 1 (DYX1) candidate 1 (C1) protein, DYX1C1, also known as dynein axonemal assembly factor 4 (DNAAF4). The human gene encoding this protein is a positional candidate gene for developmental dyslexia (DD), it is located on 15q21.3 by the DYX1 DD susceptibility locus (15q15-21) [PMID: 14506298]. Independent association studies have reported conflicting results [PMID: 15702132, PMID: 15520411, PMID: 16280601]. However, association of short-term memory, which plays a role in DD, with a variant within the DYX1C1 gene has been reported [PMID: 17309662]. Mutations in DYX1C1 have been found in patients with primary ciliary dyskinesia [PMID: 23872636]. Most proteins belonging to this group contain a C-terminal tetratricopeptide repeat (TPR) protein binding region [PMID: 12954984].

GO terms

Biological Process

GO:0003341 cilium movement

Molecular Function

No terms assigned in this category.

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
CDD