Loading...
Custom Services order now ship next day

GJA1

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]
Protein class

Cancer-related genes, Disease related genes, Human disease related genes

Predicted location

Membrane

Single cell type specificity

Cell type enhanced (Granulosa cells, Suprabasal keratinocytes, Astrocytes, Alveolar cells type 1, Basal keratinocytes, Endometrial stromal cells, Cardiomyocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (hTERT-RPE1, HUVEC TERT2, NTERA-2, SuSa, U-87 MG)

Interaction

A connexon is composed of a hexamer of connexins. Interacts (via C-terminus) with TJP1 (By similarity). Interacts (via C-terminus) with SRC (via SH3 domain) (By similarity). Interacts (not ubiquitinated) with UBQLN4 (via UBA domain) (By similarity). Interacts with SGSM3 and CNST (By similarity). Interacts with RIC1/CIP150. Interacts with CSNK1D. Interacts with NOV (PubMed:15181016, PubMed:15213231). Interacts with TMEM65 (By similarity).

More Types Infomation

Our customer service representatives are available 24 hours a day, from Monday to Sunday. Contact Us

Can't find the products you're looking for? Try to filter in the left sidebar.Filter By Tag

For Research Use Only. Not For Clinical Use.

© 2024 Creative Biolabs.
  • 0
  • 0
Cart

    Go to compare