Description
Product Characteristics:
Tect3 is a 607 amino acid single-pass type I membrane protein that belongs to the tectonic family and exists as four alternatively spliced isoforms. Tect3 interacts with MKS1 and may be involved in apoptosis regulation. The gene that encodes Tect3 contains approximately 31,560 bases and maps to human chromosome 10q24.1. Spanning nearly 135 million base pairs and encoding nearly 1,200 genes, chromosome 10 makes up approximately 4.5 % of the human genome. Several protein-coding genes, including those that encode chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman?s syndrome, Cowden syndrome, Cockayne syndrome, multiple endocrine neoplasia type 2 and porphyria. Tetrahydrobiopterin deficiency and a number of syndromes involving defective skull and facial bone fusion are also linked to chromosome 10.
Subcellular location: Cell membrane
Synonyms: C10orf61, Chromosome 10 open reading frame 61, DKFZP564D116, TCTN3, TECT3_HUMAN, Tectonic 3, Tectonic 3 precursor, Tectonic family member 3, Tectonic-3.
Target Information: This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]