ABR Summary

This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]

ABR Details

Gene Symbol : ABR

Gene Name : Active BCR-related

Chromosome : CHR 17: 122,971,2-100,351,7

Locus : 17p13.3

---

MAN2B1 Summary

This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]

MAN2B1 Details

Gene Symbol : MAN2B1

Gene Name : Mannosidase alpha class 2B member 1

Chromosome : CHR 19: 126,667,76-126,465,07

Locus : 19p13.13

---

Request Pricing

Lorem Ipsum is simply dummy text of the printing and typesetting industry.

Lorem Ipsum is simply dummy text of the printing and typesetting industry.