Description
Product Characteristics:
CCDC138, also known as FLJ32745, is a 685 amino acid protein expressed as two isoforms produced by alternative splicing. The gene that encodes CCDC138 maps to human chromosome 2q12.3. The second largest human chromosome, chromosome 2 consists of 237 million bases, encodes over 1,400 genes and makes up approximately 8 % of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr syndrome is due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes.
Subcellular location: Cytoplasm, Nucleus
Synonyms: CCDC 138, CCDC138, Coiled coil domain containing 138, Coiled coil domain containing protein 138, coiled-coil domain containing 138, FLJ 32745, FLJ32745, CC138_HUMAN.
Target Information: Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2\, see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]