Family

Meckelin (IPR019170)

Short name: Meckelin

Family relationships

None.

Description

Meckelin (also known as MKS3) is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition [PMID: 17185389]. It is involved in centrosome migration to the apical cell surface during early ciliogenesis. It is required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication [PMID: 19515853]. It is essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (sftpc) [PMID: 21725307].

Defects in the meckelin gene leads to a broad spectrum of disorders, collectively termed ciliopathies. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, and nephronophtisis among others [PMID: 17185389, PMID: 171609, PMID: 19058225, PMID: 19508969].

GO terms

Biological Process

GO:0060271 cilium assembly
GO:0010826 negative regulation of centrosome duplication

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0036038 MKS complex

Contributing signatures

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