PCCA - propionyl-CoA carboxylase subunit alpha Gene

Homo sapiens

Gene ID: 5095 | Gene type: protein coding

About PCCA

Cytogenetic location: 13q32.3 Genomic coordinates (GRCh38): 13:100,089,093-100,530,435 (from NCBI)

This gene has 16 transcripts (splice variants), 206 orthologues, 4 paralogues and is associated with 3 phenotypes. Broad expression in kidney (RPKM 11.9), liver (RPKM 5.1) and 23 other tissues.

Summary

The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial Enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this Enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an Enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

PCCA Products(11)

mRNA	Protein	Name
NM_000282.4	NP_000273.2	propionyl-CoA carboxylase alpha chain, mitochondrial isoform a precursor
NM_001127692.3	NP_001121164.1	propionyl-CoA carboxylase alpha chain, mitochondrial isoform b
NM_001178004.2	NP_001171475.1	propionyl-CoA carboxylase alpha chain, mitochondrial isoform c precursor
NM_001352605.2	NP_001339534.1	propionyl-CoA carboxylase alpha chain, mitochondrial isoform d precursor
NM_001352606.2	NP_001339535.1	propionyl-CoA carboxylase alpha chain, mitochondrial isoform e precursor
NM_001352607.2	NP_001339536.1	propionyl-CoA carboxylase alpha chain, mitochondrial isoform f
NM_001352608.2	NP_001339537.1	propionyl-CoA carboxylase alpha chain, mitochondrial isoform g
NM_001352609.2	NP_001339538.1	propionyl-CoA carboxylase alpha chain, mitochondrial isoform h precursor
NM_001352610.2	NP_001339539.1	propionyl-CoA carboxylase alpha chain, mitochondrial isoform i
NM_001352611.2	NP_001339540.1	propionyl-CoA carboxylase alpha chain, mitochondrial isoform j
NM_001352612.2	NP_001339541.1	propionyl-CoA carboxylase alpha chain, mitochondrial isoform k

PCCA Protein Structure

Biotin_carb_N

CPSase_L_D2

Biotin_carb_C

Biotin_lipoyl

0
200
400
600
728 a.a.

Protein Preferred Names

Protein Names

propionyl-CoA carboxylase alpha chain, mitochondrial

PCCase alpha subunit

Related Diseases

Diseases

Alias

Propionic Acidemia

Ketotic Hyperglycinemia	Propionyl-Coa Carboxylase Deficiency
Pcc Deficiency	Propionicacidemia
Glycinemia, Ketotic	Hyperglycinemia With Ketoacidosis And Leukopenia
Ketotic Glycinemia	Propionic Aciduria
Prop	Acidemia, Propionic
PA-1	Ketotic Ii Glycinemia
Hyperglycinemia, Ketotic	Propionic Acidemia Type I
Propionic Acidemia Type Ii	PA-2
Propionicaciduria

Multiple Carboxylase Deficiency

Mcd	Holocarboxylase Synthetase Deficiency

Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay

CAKUTHED	Doid:0112359
Anomalies, Congenital, Kidney And Urinary Tract Syndrome With/Without Hearing Loss, Abnormal Ears, Or Developmental Delay

Organic Acidemia

Organic Aciduria	Disorder Of Organic Acid Metabolism
Organic Acid Metabolism Disorder	Organic Acidemias
Inherited Organic Acidemia	Organic Acidurias
Aciduria Organic

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors	Inborn Errors Of Amino Acid Metabolism
Disorder Of Amino Acid Metabolism	Amino Acid Metabolism Disorders

Intellectual Developmental Disorder, Autosomal Dominant 5

MRD5	Autosomal Dominant Non-Syndromic Intellectual Disability 5
Intellectual Disability, Autosomal Dominant 5	Mental Retardation, Autosomal Dominant 5
Autosomal Dominant Intellectual Developmental Disorder 5	Syngap1-Related Non-Syndromic Intellectual Disability
Autosomal Dominant Intellectual Disability 5	Syngap1 Syndrome
Syngap1-Related Nsid	Syngap1 Gene Mutation Linked To Intellectual Disability, Schizophrenia And Autism

Methylmalonic Acidemia

Methylmalonic Aciduria	Mma
Acidemia, Methylmalonic	Isolated Methylmalonic Acidemia

Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2d	Pcca
PCH2D	Progressive Cerebello-Cerebral Atrophy
Cerebellocerebral Atrophy, Progressive	Pontocerebellar Hypoplasia 2d
Progressive Cerebellocerebral Atrophy	Hypoplasia, Pontocerebellar, Type 2d

Abdominal Obesity-Metabolic Syndrome 1

Metabolic Syndrome X	Metabolic Syndrome
AOMS1	Dysmetabolic Syndrome X
Metabolic Disease	Abdominal Obesity Metabolic Syndrome

Niemann-Pick Disease, Type B

Niemann-Pick Disease Type B	Acid Sphingomyelinase Deficiency, Visceral Type
Asmd, Visceral Type	Niemann Pick Disease Type B
Chronic Visceral Acid Sphingomyelinase Deficiency	Chronic Visceral Asmd
Npd-B	Niemann-Pick Disease B
NPDB	Niemann-Pick Disease Adult Non-Neuronopathic Form
Niemann-Pick Disease Intermediate With Visceral Involvement And Rapid Progression	Niemann-Pick Disease Type E
Niemann-Pick Disease Type F	Niemann-Pick Disease Type I
Niemann-Pick Disease Visceral Form	Npb
Sphingomyelinase Deficiency	Sphingomyelin Lipidosis
Niemann-Picks Disease Type B	Niemann-Pick Disease, Type E
Niemann-Pick Diseases	Niemann-Pick Disease, Type A

Maple Syrup Urine Disease

MSUD	Bckd Deficiency
Branched-Chain Ketoaciduria	Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency
Keto Acid Decarboxylase Deficiency	Maple Syrup Urine Disease, Type Ii
Branched Chain Ketoaciduria	Classic Maple Syrup Urine Disease
Intermittent Maple Syrup Urine Disease	Maple Syrup Urine Disease, Type Ia
Ketoacidaemia	Bckdh Deficiency
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency	Thiamine-Responsive Maple Syrup Urine Disease
Intermediate Maple Syrup Urine Disease	Maple Syrup Urine Disease Type 1a
Maple Syrup Urine Disease Type 1b	Maple Syrup Urine Disease Type 2
Maple Syrup Urine Disease, Type Ib	Dihydrolipoamide Dehydrogenase Deficiency
Branched-Chain Ketoacid Dehydrogenase Deficiency	Maple Syrup Disease
Ketoacidemia	Classic Bckd Deficiency
Classic Msud	Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
Classic Branched-Chain Ketoaciduria	Thiamine-Responsive Bckd Deficiency
Thiamine-Responsive Msud	Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
Intermittent Bckd Deficiency	Intermittent Msud
Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency	Maple Syrup Urine Disease 1a
MSUD1A	Maple Syrup Urine Disease Type Ia
Msud Type Ia	Maple Syrup Urine Disease 1b
MSUD1B	Maple Syrup Urine Disease Type Ib
Msud Type Ib	Maple Syrup Urine Disease 2
MSUD2	Maple Syrup Urine Disease Type Ii
Msud Type Ii	Nadh Cytochrome B5 Reductase Deficiency
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency	Ketonemia
Maple Syrup Urine Disease, Type 1b	Ketoacid Decarboxylase Deficiency
Oxoacid Decarboxylase Deficiency	Branched Chain Ketoacid Dehydrogenase Deficiency
Msud - [Maple-Syrup-Urine Disease]	Ketoaminoacidaemia
Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]	Maple-Syrup-Urine Disorder
Maple-Syrup-Urine Syndrome

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-100013A1	(1R,2R)-2-PCCA hydrochloride		98.08%	Unkown
HY-100013C	2-PCCA hydrochloride		99.63%	Unkown
HY-RS10119	PCCA Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PCCA	VGNC	VGNC:75773
Rattus norvegicus	PCCA	RGD	RGD:3264
Bos taurus	PCCA	VGNC	VGNC:32613
Canis familiaris	PCCA	VGNC	VGNC:44292
Mus musculus	PCCA	MGD	MGI:97499
Felis catus	PCCA	VGNC	VGNC:68713

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