IBA57 - iron-sulfur cluster assembly factor IBA57 Gene

Homo sapiens

Also known as MMDS3; SPG74; C1orf69

Gene ID: 200205 | Gene type: protein coding

About IBA57

Cytogenetic location: 1q42.13 Genomic coordinates (GRCh38): 1:228,165,804-228,182,257 (from NCBI)

This gene has 3 transcripts (splice variants), 190 orthologues and is associated with 4 phenotypes. Ubiquitous expression in kidney (RPKM 1.9), bone marrow (RPKM 1.8) and 25 other tissues.

Summary

The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015]

IBA57 Products(2)

mRNA	Protein	Name
NM_001010867.4	NP_001010867.1	putative transferase CAF17, mitochondrial isoform 1 precursor
NM_001310327.2	NP_001297256.1	putative transferase CAF17, mitochondrial isoform 2

IBA57 Protein Structure

GCV_T

GCV_T_C

0
100
200
300
356 a.a.

Protein Preferred Names

Protein Names

putative transferase CAF17, mitochondrial

IBA57 homolog, iron-sulfur cluster assembly

Related Diseases

Diseases

Alias

Multiple Mitochondrial Dysfunctions Syndrome 3

MMDS3	Iba57 Deficiency
Multiple Mitochondrial Dysfunctions Syndrome Type 3	Mitochondrial Dysfunctions, Multiple, Syndrome, Type 3

Spastic Paraplegia 74, Autosomal Recessive

SPG74	Hereditary Spastic Paraplegia 74
Autosomal Recessive Spastic Paraplegia 74	Autosomal Recessive Spastic Paraplegia Type 74
Paraplegia, Spastic, Autosomal Recessive, Type 74

Multiple Mitochondrial Dysfunctions Syndrome

Fatal Multiple Mitochondrial Dysfunctions Syndrome	Fatal Multiple Mitochondrial Dysfunction Syndrome
Mmds	Multiple Mitochondrial Dysfunction Syndrome
Mitochondrial Dysfunctions, Multiple, Syndrome	Multiple Mitochondrial Dysfunctions Syndrome 1

Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia

Multiple Mitochondrial Dysfunctions Syndrome 2	MMDS2
Bola3 Deficiency	Multiple Mitochondrial Dysfunctions Syndrome Type 2
Mitochondrial Dysfunctions Syndrome, Multiple, Type 2

Multiple Mitochondrial Dysfunctions Syndrome 4

MMDS4	Multiple Mitochondrial Dysfunctions Syndrome Type 4
Mitochondrial Dysfunctions, Multiple, Syndrome, Type 4

Multiple Mitochondrial Dysfunctions Syndrome 1

MMDS1	Mmds
Nfu1 Deficiency	Multiple Mitochondrial Dysfunctions Syndrome Type 1
Mitochondrial Dysfunctions Syndrome, Multiple, Type 1

Spastic Paraplegia 77, Autosomal Recessive

SPG77	Hereditary Spastic Paraplegia 77
Autosomal Recessive Spastic Paraplegia 77	Autosomal Recessive Spastic Paraplegia Type 77

Spastic Paraplegia 55, Autosomal Recessive

SPG55	Hereditary Spastic Paraplegia 55
Autosomal Recessive Spastic Paraplegia Type 55	Autosomal Recessive Spastic Paraplegia 55
Paraplegia, Spastic, Autosomal Recessive, Type 55

Spastic Paraplegia 63, Autosomal Recessive

SPG63	Hereditary Spastic Paraplegia 63
Spastic Paraplegia 63	Autosomal Recessive Spastic Paraplegia 63
Autosomal Recessive Spastic Paraplegia Type 63	Paraplegia, Spastic, Type 63, Autosomal Recessive

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Combined Oxidative Phosphorylation Deficiency 19

COXPD19	Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency
Combined Oxidative Phosphorylation Deficiency, Type 19

Anemia, Sideroblastic, 1

Xlsa	X-Linked Sideroblastic Anemia
Hypochromic Anemia	Anh1
Hereditary Iron-Loading Anemia	Anemia, Sideroblastic, X-Linked
Anemia, Hereditary Sideroblastic	Erythroid 5-Aminolevulinate Synthase Deficiency
Hereditary Sideroblastic Anemia	SIDBA1
Anemia, Hypochromic	Sideroblastic Anemia 1
Anemia Hypochromic	X Chromosome-Linked Sideroblastic Anemia
Sideroblastic Anaemia 1	X-Linked Sideroblastic Anaemia
Anemia Hereditary Sideroblastic	Anemia Sex-Linked Hypochromic Sideroblastic
Congenital Sideroblastic Anemia	Sideroblastic Anemia X-Linked
Anemia, Sex-Linked Hypochromic Sideroblastic	Congenital Sideroblastic Anaemia
X-Linked Pyridoxine-Responsive Sideroblastic Anemia	Anemia Congenital Sideroblastic
Anemia, Sideroblastic, Type 1	Sex-Linked Hypochromic Sideroblastic Anaemia
Autosomal Recessive Sideroblastic Anaemia	Familial Sex Linked Hypochromic Anaemia

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia	Nonketotic Hyperglycinemia
NKH	GCE
Hyperglycinemia, Nonketotic	Hyperglycinemia Nonketotic
Infantile Glycine Encephalopathy	Encephalopathy, Glycine
Glycine Synthase Deficiency	Nka
Neonatal Glycine Encephalopathy	Classic Glycine Encephalopathy
Neonatal Nkh	Neonatal Non-Ketotic Hyperglycinemia
Infantile Nkh	Infantile Non-Ketotic Hyperglycinemia
Non-Ketotic Hyperglycinaemia	Glycine Cleavage Deficiency
Nonketotic Hyperglycinaemia

Respiratory Failure

Acute Respiratory Failure	Chronic Respiratory Failure
Respiratory Insufficiency	Acute-On-Chronic Respiratory Failure
Respiratory Disease	Acute And Chronic Respiratory Failure
Respiratory Insufficiency/Failure	Chronic Respiratory Disease
Pulmonary Valve Insufficiency	Chronic Disease Of Respiratory System
Respiration Disorders	Respiratory Tract Diseases
Lung Failure Nos	Pulmonary Failure
Arf - [Acute Respiratory Failure]	Acute Respiratory Insufficiency
Acute Pulmonary Insufficiency	Acute Respiration Failure
Chronic Respiration Failure

Pyruvate Dehydrogenase E1-Alpha Deficiency

Pyruvate Dehydrogenase Deficiency	Pyruvate Dehydrogenase Complex Deficiency
Pyruvate Decarboxylase Deficiency	Pdh Deficiency
PDHAD	Pyruvate Dehydrogenase Complex Deficiency Disease
Ataxia With Lactic Acidosis I	Ataxia With Lactic Acidosis 1
Pdh	Pdhc
Ataxia With Lactic Acidosis	Ataxia, Intermittent, With Abnormal Pyruvate Metabolism
Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency	Deficiency Of Pyruvic Dehydrogenase
Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency	Pdc Deficiency
Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency	Pdhc Deficiency
Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency	Ataxia Intermittent With Abnormal Pyruvate Metabolism
Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency	Pyruvate Dehydrogenase E1 Alpha Deficiency
Pdc - [Pyruvate Dehydrogenase Complex] Deficiency	Ataxia With Lactic Acidosis 2

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06508	IBA57 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	IBA57	VGNC	VGNC:62864
Mus musculus	IBA57	MGD	MGI:3041174
Bos taurus	IBA57	VGNC	VGNC:30020
Rattus norvegicus	IBA57	RGD	RGD:1306000
Canis familiaris	IBA57	VGNC	VGNC:41851

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