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LDHB (NM_001174097) - lactate dehydrogenase B

L-Lactate Dehydrogenase B Chain Isoform Ldhb

Mutations Visualisation

Protein summary

This is an alternative isoform of LDHB protein. View all 2 isoforms
LDHB: L-lactate dehydrogenase B chain isoform LDHB
Description:

This gene encodes the B subunit of lactate dehydrogenase enzyme, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+ in a post-glycolysis process. Alternatively spliced transcript variants have been found for this gene. Recent studies have shown that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Mutations in this gene are associated with lactate dehydrogenase B deficiency. Pseudogenes have been identified on chromosomes X, 5 and 13. [provided by RefSeq, Feb 2016].

Strand
-
Chromosome
12
Protein
334 residues
All mutations
50
PTM sites
40
CDS
21,788,475 - 21,807,605
Transcription
21,788,275 - 21,810,728
0.3% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 3945
UniProt
Ensembl