1. Gene
  2. LDHA - lactate dehydrogenase A Gene

LDHA - lactate dehydrogenase A Gene

中文名称:乳酸脱氢酶 A

种属: Homo sapiens

同用名: LDHM; GSD11; PIG19; HEL-S-133P

基因 ID: 3939 | 基因类型: protein coding

关于 LDHA

Cytogenetic location: 11p15.1 Genomic coordinates (GRCh38): 11:18,394,563-18,408,425 (from NCBI)

This gene has 25 transcripts (splice variants), 1 gene allele, 297 orthologues, 5 paralogues and is associated with 2 phenotypes. Ubiquitous expression in small intestine (RPKM 177.1), liver (RPKM 154.8) and 25 other tissues.

功能概要

该基因编码的蛋白质在无氧糖酵解的最后一步催化 L-乳酸和 NAD 转化为丙酮酸和 NADH。该蛋白质主要存在于肌肉组织中,属于乳酸脱氢酶家族。该基因的突变与劳力性肌红蛋白尿有关。已发现该基因编码不同异构体的多个转录变体。人类基因组包含该基因的几个非转录假基因。[RefSeq 提供,2008 年 9 月]

The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the Lactate Dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008]

LDHA 基因产物(5)

mRNA Protein Name
NM_001135239.2 NP_001128711.1 L-lactate dehydrogenase A chain isoform 2
NM_001165414.2 NP_001158886.1 L-lactate dehydrogenase A chain isoform 3
NM_001165415.2 NP_001158887.1 L-lactate dehydrogenase A chain isoform 4
NM_001165416.2 NP_001158888.1 L-lactate dehydrogenase A chain isoform 5
NM_005566.4 NP_005557.1 L-lactate dehydrogenase A chain isoform 1

LDHA 蛋白结构

Ldh_1_N

Ldh_1_N: lactate/malate dehydrogenase, NAD binding domain (21 - 160)

Ldh_1_C

Ldh_1_C: lactate/malate dehydrogenase, alpha/beta C-terminal domain (164 - 324)

  • 0
  • 100
  • 200
  • 300
  • 332 a.a.
蛋白主名 其他名称

L-lactate dehydrogenase A chain

LDH muscle subunit

重组 LDHA 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70225 LDHA Protein, Human (His) P00338 (M1-F332) ≥95%

关联疾病

疾病名称 别名
Fanconi-Bickel Syndrome

Glycogen Storage Disease Xi

Lactate Dehydrogenase A Deficiency

Hepatorenal Glycogenosis With Renal Fanconi Syndrome

Hepatic Glycogenosis With Amino Aciduria And Glucosuria

Fanconi Syndrome With Intestinal Malabsorption And Galactose Intolerance

Pseudo-Phlorizin Diabetes

Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency

FBS

Hepatic Glycogenosis With Fanconi Nephropathy

GSD11

Gsd Xi

Glycogen Storage Disease Due To Glut2 Deficiency

Glycogenosis Fanconi Type

Lactate Dehydrogenase Deficiency Type A

Glycogenosis, Fanconi Type

Fanconi Bickel Syndrome

Glut2 Deficiency

Gsd Due To Glut2 Deficiency

Glycogenosis Due To Glut2 Deficiency

Gsd Due To Lactate Dehydrogenase M-Subunit Deficiency

Glycogenosis Due To Lactate Dehydrogenase M-Subunit Deficiency

Ldh-M Subunit Deficiency

Glycogen Storage Disease 11

Storage Disease, Glycogen, Type Xi

Glycogenosis With Glucoaminophosphaturia

Myoglobinuria
Leiomyomatosis
Hyperinsulinemic Hypoglycemia, Familial, 7

HHF7

Exercise-Induced Hyperinsulinemic Hypoglycemia

Exercise-Induced Hyperinsulinism

Familial Hyperinsulinemic Hypoglycemia 7

Eihi

Hyperinsulinism Due To Monocarboxylate Transporter 1 Deficiency

Hyperinsulinism Due To Slc16a1 Deficiency

Hyperinsulinemic Hypoglycemia, Exercise-Induced

Exercise Induced Hyperinsulinemic Hypoglycemia

Hyperinsulinemic Hypoglycemia Exercise-Induced

Hyperinsulinemic Hypoglycemia Familial 7

Glycogen Storage Disease

Glycogenosis

Glycogenoses

Gsd

Storage Disease, Glycogen

Gsd - [Glycogen Storage Disease]

Glycogen Thesaurismosis

Diffuse Glycogenosis

Generalised Glycogen Storage Disease

Generalised Glycogenosis

Generalised Glycogen Storage Disease Of Infants

Glycogen Synthase Deficiency

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Burkitt Lymphoma

Burkitt'S Lymphoma

BL

Burkitt Lymphoma, Somatic

Burkitt Lymphoma/Leukaemia

Burkitt'S Tumor

Burkitt'S Tumor Or Lymphoma

Malignant Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma

Burkitt Tumor

Burkitts Lymphoma

Lymphoma, Small Noncleaved-Cell

Burkitt Tumour

Diffuse Small Noncleaved Malignant Burkitt Lymphoma

Malignant Burkitt Lymphoma

“Burkitt-Like” Lymphoma

Undifferentiated Burkitt Lymphoma

Small Noncleaved Cell Burkitt Lymphoma

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa 8, Formerly

Rp8, Formerly

Retinitis Pigmentosa 21, Formerly

Rp21, Formerly

Usher Syndrome

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Intrahepatic Gall Duct Cancer

Malignant Neoplasm Of Intrahepatic Bile Ducts

Malignant Neoplasm Of Intrahepatic Gall Duct

Ca Intrahepatic Bile Ducts

Malignant Neoplasm Of Intrahepatic Biliary Passages

Intrahepatic Bile Duct Carcinoma

Alzheimer Disease 13

AD13

Alzheimer Disease-13

Alzheimer'S Disease 13

Alzheimer'S Disease 13, Late Onset

Esophagus Carcinoma In Situ

Carcinoma In Situ Of Esophagus

Carcinoma In Situ Of Oesophagus

Oesophagus Carcinoma In Situ

Severe Esophageal Dysplasia

Stage 0 Carcinoma Of The Esophagus

Stage 0 Carcinoma Of The Oesophagus

Severe Oesophageal Dysplasia

Stress Polycythemia

Gaisbock'S Syndrome

Polycythemia, Emotional

Pseudopolycythaemia

Gaisboeck'S Syndrome

Pseudopolycythemia

Gaisbock Syndrome

Stress Erythrocytosis

Pseudo-Polycythemia

Relative Erythrocytosis

Liver Carcinoma In Situ

Carcinoma In Situ Of Liver And Biliary System

Carcinoma In Situ Of Liver, Gallbladder And Bile Ducts

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

Amyotrophic Lateral Sclerosis 3

ALS3

Amyotrophic Lateral Sclerosis Type 3

Parkinson Disease 17

PARK17

Parkinson'S Disease 17

Autosomal Dominant Parkinson Disease 17

Parkinson Disease, Type 17

Combined Oxidative Phosphorylation Deficiency 33

COXPD33

Prolapse Of Urethra

Urethrocele

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus LDHA RGD RGD:2996
Felis catus LDHA VGNC VGNC:81201
Mus musculus LDHA MGD MGI:96759
Others LDHA NCBI