全周 (9AM - 6PM)

我们和你在一起

Extra info thumb
ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER L2; ALDH1L2

ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER L2; ALDH1L2

Alternative titles; symbols10-FORMYLTETRAHYDROFOLATE DEHYDROGENASE, MITOCHONDRIALMITOCHONDRIAL 10-FORMYLTETRAHYDROFOLATE DEHYDROGENASEHGNC Approved Gene Symbol: ...

Alternative titles; symbols

  • 10-FORMYLTETRAHYDROFOLATE DEHYDROGENASE, MITOCHONDRIAL
  • MITOCHONDRIAL 10-FORMYLTETRAHYDROFOLATE DEHYDROGENASE

HGNC Approved Gene Symbol: ALDH1L2

Cytogenetic location: 12q23.3 Genomic coordinates (GRCh38): 12:105,019,783-105,084,608 (from NCBI)

▼ Description
ALDH1L2 encodes the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH) (EC 1.5.1.6), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction (Krupenko et al., 2010).

▼ Cloning and Expression
By searching a database for sequences similar to rat cytosolic Fdh (ALDH1L1; 600249), followed by PCR amplification, Krupenko et al. (2010) cloned human ALDH1L2. The deduced 923-amino acid protein shares about 72% identity with human ALDH1L1. Both proteins share 3 distinct domains, but ALDH1L2 has a 22-amino acid N-terminal mitochondrial targeting signal that is not present in ALDH1L1. Real-time PCR detected highest ALDH1L2 expression in pancreas, followed by heart, skeletal muscle, kidney, brain, liver, and lung. Little to no expression was detected in placenta, small intestine, spleen, prostate, and leucocytes. ALDH1L2 expression was also detected in all cancer cell lines examined. Fluorescence-tagged ALDH1L2 localized to mitochondria in transfected COS-7 cells and in a human nonsmall cell lung carcinoma cell line.

▼ Gene Structure
Krupenko et al. (2010) determined that the ALDH1L2 gene contains 23 exons and spans 60 kb.

▼ Mapping
By genomic sequence analysis, Krupenko et al. (2010) mapped the ALDH1L2 gene to chromosome 12q24.11.

Tags: 12q23.3