Family

Cytoplasmic dynein 2 heavy chain 1 (IPR026815)

Short name: DYNC2H1

Overlapping homologous superfamilies

None.

Family relationships

Description

Cytoplasmic dynein 2 heavy chain 1 (DYNC2H1) is a subunit of the cytoplasmic dynein complex 2. It may function as a motor for intraflagellar retrograde transport. It also plays a role in cilia biogenesis [PMID: 8666668].

Defects in DYNC2H1 are the cause of asphyxiating thoracic dystrophy type 3 (ATD3) and the cause of short rib-polydactyly syndrome type 3 (SRPS3, also called Verma-Naumoff syndrome). ATD3 is an autosomal recessive osteochondrodysplasia which often leads to death in infancy because of a severely constricted thoracic cage and respiratory insufficiency [PMID: 19442771]. SRPS3 is a lethal skeletal dysplasia characterised by markedly short ribs, short limbs, polydactyly, narrow thorax, and multiple anomalies of major organs, including heart, intestines, genitalia, kidney, liver, and pancreas [PMID: 19361615].

GO terms

Biological Process

GO:0007018 microtubule-based movement

Molecular Function

GO:0003777 microtubule motor activity

Cellular Component

No terms assigned in this category.

Contributing signatures

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