PHGDH - phosphoglycerate dehydrogenase Gene

Homo sapiens

Also known as NLS; PDG; PGD; NLS1; PGAD; PGDH; SERA; 3PGDH; 3-PGDH; PHGDHD; HEL-S-113

Gene ID: 26227 | Gene type: protein coding

About PHGDH

Cytogenetic location: 1p12 Genomic coordinates (GRCh38): 1:119,711,934-119,744,215 (from NCBI)

This gene has 34 transcripts (splice variants), 217 orthologues, 3 paralogues and is associated with 5 phenotypes. Broad expression in fat (RPKM 36.0), skin (RPKM 33.6) and 23 other tissues.

Summary

This gene encodes the Enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The Enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011]

PHGDH Products(9)

mRNA	Protein	Name
XM_047417680.1	XP_047273636.1	D-3-phosphoglycerate dehydrogenase isoform X4
XM_011541228.3	XP_011539530.1	D-3-phosphoglycerate dehydrogenase isoform X3
XM_011541227.3	XP_011539529.1	D-3-phosphoglycerate dehydrogenase isoform X2
XM_047417682.1	XP_047273638.1	D-3-phosphoglycerate dehydrogenase isoform X5
NM_032692.1
XM_011541226.3	XP_011539528.1	D-3-phosphoglycerate dehydrogenase isoform X1
XM_047417683.1	XP_047273639.1	D-3-phosphoglycerate dehydrogenase isoform X6
NM_006623.4	NP_006614.2	D-3-phosphoglycerate dehydrogenase
XR_007058634.1

PHGDH Protein Structure

2-Hacid_dh

2-Hacid_dh_C

0
100
200
300
400
500
533 a.a.

Protein Preferred Names

Protein Names

D-3-phosphoglycerate dehydrogenase

2-oxoglutarate reductase	3-phosphoglycerate dehydrogenase
epididymis secretory protein Li 113	malate dehydrogenase

Recombinant PHGDH Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74633	PHGDH Protein, Human (His)	O43175 (M1-F533)	≥95%
HY-P74633A	PHGDH Protein, Human (C-His)	O43175 (M1-F533)	≥95%

Related Diseases

Diseases

Alias

Retinitis Pigmentosa 61

RP61	Retinitis Pigmentosa, Type 61

Phosphoglycerate Dehydrogenase Deficiency

Phgdh Deficiency	3-Phosphoglycerate Dehydrogenase Deficiency
PHGDHD	3-Pgdh Deficiency
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Phgdh Deficiency, Infantile/Juvenile Form
Deficiency, Phosphoglycerate Dehydrogenase

Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 2	SRTD2
Atd2	Jatd
Jeune Asphyxiating Thoracic Dystrophy	Jeune Syndrome 2

Neu-Laxova Syndrome Due To 3-Phosphoglycerate Dehydrogenase Deficiency

3-Phosphoglycerate Dehydrogenase Deficiency, Prenatal Form

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Ectropion

Ectropion Of Eyelid	Everted Margin
Eversion Of The Eyelid	Eyelashes Turned Out
Eyelid Everted	Eyelid Turned Out
Unspecified Ectropion Of Unspecified Eye

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Phosphoserine Aminotransferase Deficiency

Psat Deficiency	PSATD
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Psat Deficiency, Infantile/Juvenile Form
Deficiency, Phosphoserine Aminotransferase

Neu-Laxova Syndrome 1

Neu-Laxova Syndrome	NLS1
Nls	Neu Laxova Syndrome
3-Phosphoglycerate Dehydrogenase Deficiency, Neonatal Form

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Serine Deficiency

Familial Thyroid Dyshormonogenesis

Thyroid Dyshormonogenesis

Familial Dyshormonogenetic Goiter

Split-Hand/Foot Malformation 2

SHFM2	Shfd2
Shsf2	Split Hand/Foot Malformation 2
Split Hand-Foot Malformation 2	Split-Hand/Split-Foot Anomaly, X-Linked
Split-Hand/Foot Deformity 2	Split Hand/Foot Malformation X-Linked
Split Hand Foot Anomaly - X-Linked	Split Hand Foot Deformity 2

Breast Cancer

Breast Carcinoma	Breast Cancer, Familial
Malignant Neoplasm Of Breast	Male Breast Cancer
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

Cerebellar Hypoplasia

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (15)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-101966	NCT-503		99.85%	Unkown
HY-100012	CBR-5884		99.02%	Unkown
HY-117240	NCT-502		99.18%	Unkown
HY-126253	BI-4916		98.55%	Unkown
HY-126254	BI-4924		99.55%	Unkown
HY-123269	PKUMDL-WQ-2101	Inhibitor	99.85%	Unkown
HY-121733	PHGDH-inactive		99.72%	Unkown
HY-148570	PHGDH-IN-3	Inhibitor	98.99%	Unkown
HY-123418	PKUMDL-WQ-2201	Inhibitor	98.72%	Unkown
HY-145860	PHGDH-IN-2		/	Unkown
HY-161456	PHGDH-IN-5	Inhibitor	/	Unkown
HY-RS10432	PHGDH Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS10433	Phgdh Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS10434	Phgdh Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-160252	PHGDH-IN-4	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PHGDH	VGNC	VGNC:75976
Rattus norvegicus	PHGDH	RGD	RGD:61987
Felis catus	PHGDH	VGNC	VGNC:68824
Bos taurus	PHGDH	VGNC	VGNC:55654
Mus musculus	PHGDH	MGD	MGI:1355330
Others	PHGDH	NCBI

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