1. Gene
  2. LDHB - lactate dehydrogenase B Gene

LDHB - lactate dehydrogenase B Gene

Homo sapiens

Also known as LDH-B; LDH-H; LDHBD; TRG-5; HEL-S-281

Gene ID: 3945 | Gene type: protein coding

About LDHB

Cytogenetic location: 12p12.1 Genomic coordinates (GRCh38): 12:21,635,342-21,657,842 (from NCBI)

This gene has 11 transcripts (splice variants), 279 orthologues, 5 paralogues and is associated with 2 phenotypes. Broad expression in kidney (RPKM 475.5), heart (RPKM 454.7) and 21 other tissues.

Summary

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]

LDHB Products(6)

mRNA Protein Name
NM_001174097.3 NP_001167568.1 L-lactate dehydrogenase B chain isoform LDHB
NM_001315537.2 NP_001302466.1 L-lactate dehydrogenase B chain isoform LDHBx
NM_001414233.1 NP_001401162.1 L-lactate dehydrogenase B chain isoform 3
NM_001414234.1 NP_001401163.1 L-lactate dehydrogenase B chain isoform 4
NM_001414235.1 NP_001401164.1 L-lactate dehydrogenase B chain isoform 5
NM_002300.8 NP_002291.1 L-lactate dehydrogenase B chain isoform LDHB

LDHB Protein Structure

Ldh_1_N

Ldh_1_N: lactate/malate dehydrogenase, NAD binding domain (22 - 161)

Ldh_1_C

Ldh_1_C: lactate/malate dehydrogenase, alpha/beta C-terminal domain (165 - 329)

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  • 334 a.a.
Protein Preferred Names Protein Names

L-lactate dehydrogenase B chain

LDH heart subunit

Recombinant LDHB Proteins

Cat. No. Product Name Accession Purity
HY-P70265 LDHB Protein, Human (His) P07195 (M1-L334) ≥95%

Related Diseases

Diseases Alias
Lactate Dehydrogenase B Deficiency

LDHBD

Glycogen Storage Disease Due To Lactate Dehydrogenase H-Subunit Deficiency

Lactate Dehydrogenase-B Deficiency

Ldh Deficiency B

Lactate Dehydrogenase Deficiency Type B

Gsd Due To Lactate Dehydrogenase H-Subunit Deficiency

Glycogenosis Due To Lactate Dehydrogenase H-Subunit Deficiency

Ldh-H Subunit Deficiency

Maxillary Sinus Cancer

Malignant Neoplasm Of Antrum

Malignant Tumor Of The Maxillary Sinus

Maxillary Sinus Carcinoma

Cancer Of Maxillary Sinus

Maxillary Sinus Neoplasms

Maxillary Sinus Squamous Cell Carcinoma

Epidermoid Carcinoma Of The Maxillofacial Sinus

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa 8, Formerly

Rp8, Formerly

Retinitis Pigmentosa 21, Formerly

Rp21, Formerly

Usher Syndrome

Alzheimer Disease 13

AD13

Alzheimer Disease-13

Alzheimer'S Disease 13

Alzheimer'S Disease 13, Late Onset

Parkinson Disease 17

PARK17

Parkinson'S Disease 17

Autosomal Dominant Parkinson Disease 17

Parkinson Disease, Type 17

Paranasal Sinus Cancer

Paranasal Sinus Adenoid Cystic Carcinoma

Paranasal Sinus Mucoepidermoid Carcinoma

Paranasal Sinus Squamous Cell Carcinoma

Paranasal Sinus Neoplasms

Adenoid Cystic Carcinoma Of Accessory Sinus

Adenoid Cystic Carcinoma Of Paranasal Sinus

Epidermoid Carcinoma Of The Paranasal Sinus

Mucoepidermoid Carcinoma Of Accessory Sinus

Paranasal Sinus Adenocarcinoma

Squamous Cell Carcinoma Of Paranasal Sinus

Paranasal Sinus Neoplasm

Adenocarcinoma Of Accessory Sinus

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus LDHB VGNC VGNC:30824
Mus musculus LDHB MGD MGI:96763
Rattus norvegicus LDHB RGD RGD:2997
Others LDHB NCBI