RBCC

LDHB_HUMAN

Source: hRBCD ; ID: IPI00219217
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: LDHB
Protein names and data: LDHB_HUMAN , L-lactate dehydrogenase B chain; LDH-B; 1.1.1.27 , LDH heart subunit; LDH-H; Renal carcinoma antigen NY-REN-46 Lenght: 334 a.a.
Mass: 36638 Da
fasta formatted sequence
Catalytic activity: (S)-lactate + NAD(+) = pyruvate + NADH.
Pathway: Fermentation; pyruvate fermentation to lactate; (S)- lactate from pyruvate: step 1/1.
Cellular location: Cytoplasm.

Genetic variants

Rare LDHB variants result in deficiency of lactate dehydrogenase, a condition with no deleterious effects on health. LDHB deficiency is of interest to laboratory medicine mainly because it can cause misdiagnosis in those disorders in which elevation of serum LDH is expected. Lactate dehydrogenase deficiency can probably be considered a non-disease [MIM:614128].

7 - 7 K -> E (in LDHB deficiency; slightly decreased activity). VAR_004173
35 - 35 A -> E (in LDHB deficiency). VAR_004174
69 - 69 G -> E (in LDHB deficiency). VAR_011634
107 - 107 R -> W (in LDHB deficiency; inactive). VAR_011635
129 - 129 S -> R (in LDHB deficiency). VAR_004175
171 - 171 F -> V (in LDHB deficiency). VAR_004176
172 - 172 R -> H (in LDHB deficiency; unstable). VAR_004177
172 - 172 R -> P (in LDHB deficiency). VAR_011636
175 - 175 M -> L (in LDHB deficiency). VAR_004178
175 - 175 M -> V (in dbSNP:rs7966339). VAR_049758 7966339
223 - 223 Missing (in LDHB deficiency). VAR_011637
322 - 322 D -> V (in LDHB deficiency). VAR_004179
325 - 325 W -> R (in LDHB deficiency). VAR_011638

Database cross-references

UniProt: P07195
Ensembl: ENST00000350669
Ensembl: ENST00000396076
MIM: 150100
MIM: 614128
neXtProt: NX_P07195
Antibodypedia: P07195 (may not find the protein thus also not any antibody)
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RBCC Red Blood Cell Collection

LDHB_HUMAN

Genetic variants

Database cross-references

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