Published on 01 January 2021 |

Version 1
Hallgrimsson, Benedikt;Devine, Jay

Description

This unpublished dataset is based on the Cc2d2a gene, which is: involved in cilium assembly and protein localization to ciliary transition zone. Acts upstream of or within several processes, including animal organ development; cilium assembly; and neural tube closure. Located in ciliary transition zone. Part of MKS complex. Used to study Meckel syndrome and visceral heterotaxy. Human ortholog(s) of this gene implicated in Joubert syndrome 9; Meckel syndrome 6; and intellectual disability. Orthologous to human CC2D2A. The Mks (Cc2d2a) data are closely related to the other ciliopathy datasets in MusMorph, including B9d, Ift, and Tctn.

Citations (0)

Mentions (0)

Metrics

Dataset Index

0.2

FAIR Score

15%

Citations

0

Mentions

0

Metrics Over Time

Publication Details

DOI

Publisher

FaceBase (www.facebase.org)

Assigned Domain

Subfield

Molecular Biology

Field

Biochemistry, Genetics and Molecular Biology

Domain

Life Sciences

Confidence Score

44%

Source

Scholar Data Model

Keywords

DatasetCraniofacial developmentCraniosafial malformation

Normalization Factors

FT

30.77

CTw

1.00

MTw

1.00