General description
Homogentisate 1,2-dioxygenase (HGD) gene mutations are the molecular cause of alkaptonuria, a rare hereditary disorder of the phenylalanine catabolism. The highest expression of HGD is in the prostate, small intestine, colon, and liver. The HGD gene contains 14 exons. Conflicting reports have placed the gene at 3q2, 3q13.3-q21, 3q21-q24, 3q21-q23, or 3q25-q26. (provided by RefSeq)
Immunogen
HGD (AAH71757.1, 1 a.a. ~ 445 a.a) full-length human protein.
Sequence
MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGHVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN
Physical form
Solution in phosphate buffered saline, pH 7.4
| biological source | mouse |
| Quality Level | 100 |
| conjugate | unconjugated |
| antibody form | purified immunoglobulin |
| antibody product type | primary antibodies |
| clone | polyclonal |
| form | buffered aqueous solution |
| mol wt | antigen ~50 kDa |
| species reactivity | human |
| technique(s) | indirect immunofluorescence: suitable,western blot: 1 μg/mL |
| NCBI accession no. | NM_000187.1 |
| UniProt accession no. | Q93099 |
| shipped in | dry ice |
| storage temp. | −20°C |
| target post-translational modification | unmodified |
| Gene Information | human ... HGD(3081) |
