ANKH - ANKH inorganic pyrophosphate transport regulator Gene

Homo sapiens

Also known as ANK; CMDJ; HANK; MANK; CCAL2; CPPDD; SLC62A1

Gene ID: 56172 | Gene type: protein coding

About ANKH

Cytogenetic location: 5p15.2 Genomic coordinates (GRCh38): 5:14,704,800-14,871,778 (from NCBI)

This gene has 9 transcripts (splice variants), 222 orthologues and is associated with 6 phenotypes. Ubiquitous expression in prostate (RPKM 21.9), brain (RPKM 17.0) and 25 other tissues.

Summary

This gene encodes a multipass transmembrane protein that is expressed in joints and Other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher Animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]

ANKH Products(1)

mRNA	Protein	Name
NM_054027.6	NP_473368.1	progressive ankylosis protein homolog

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP transmembrane transporter activity	IDA IDA: Inferred from direct assay	32639996	GOA
enables inorganic diphosphate transmembrane transporter activity	IDA IDA: Inferred from direct assay	11326272	GOA
enables phosphate transmembrane transporter activity	IDA IDA: Inferred from direct assay	11326272	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ATP export	IMP IMP: Inferred from mutant phenotype	32639996	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in membrane	IDA IDA: Inferred from direct assay	11326272	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	20943778	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ANKH Protein Structure

ANKH

0
100
200
300
400
492 a.a.

Protein Preferred Names

Protein Names

progressive ankylosis protein homolog

ankylosis, progressive homolog

Related Diseases

Diseases

Alias

Craniometaphyseal Dysplasia, Autosomal Dominant

Craniometaphyseal Dysplasia	CMDD
Cmdj	Cmd
Autosomal Dominant Craniometaphyseal Dysplasia	Craniometaphyseal Dysplasia, Jackson Type
Craniometaphyseal Dysplasia Jackson Type	Autosomal Recessive Craniometaphyseal Dysplasia
Cmdr	Dysplasia, Craniometaphyseal, Autosomal Dominant
Craniometaphyseal Dysplasia, Autosomal Recessive Type

Chondrocalcinosis 2

Calcium Pyrophosphate Arthropathy	CCAL2
Calcium Gout	Calcium Pyrophosphate Dihydrate Deposition Disease
Cppdd	Calcium Pyrophosphate Dihydrate Deposition Disease 2
Cppdd2	Chondrocalcinosis, Familial Articular
Chondrocalcinosis Familial Articular	Familial Articular Chondrocalcinosis
Calcium Pyrophosphate Dihydrate Deposition	Calcium Gout, Familial
Calcium Pyrophosphate Arthropathy, Familial	Familial Calcium Pyrophosphate Dihydrate Deposition Disease
Pseudogout, Familial	Chondrocalcinosis, Type 2

Familial Calcium Pyrophosphate Deposition

Calcium Pyrophosphate Dihydrate Crystal Deposition Disease	Familial Cc
Familial Cppd	Familial Articular Chondrocalcinosis
Hereditary Cc	Hereditary Articular Chondrocalcinosis
Hereditary Calcium Pyrophosphate Deposition	Calcium Pyrophosphate Deposition Disease
Calcium Pyrophosphate Arthropathy

Ankylosis

Chondrocalcinosis

Pseudogout	Calcium Pyrophosphate Deposition Disease
Familial Chondrocalcinosis	Chondrocalcinosis Nos
Cppd - [Calcium Pyrophosphate Deposition Disease]	Cpdd - [Calcium Pyrophosphate Deposition Disease]
Chondrocalcinosis, Due To Pyrophosphate Crystals, Involving Unspecified Site	Chondrocalcinosis, Cause Unspecified
Chondrocalcinosis Due To Pyrophosphate Crystals	Chondrocalcinosis Articularis
Calcium Pyrophosphate Arthritis And Periarthritis

Glioblastoma

Glioblastoma Multiforme	Gbm
Adult Glioblastoma Multiforme	Grade Iv Adult Astrocytic Tumor
Primary Glioblastoma Multiforme	Spongioblastoma Multiforme
Adult Glioblastoma	Primary Glioblastoma

Arthropathy

Ankylosis Of Ankle And Foot Joint	Ankylosis Of Forearm Joint
Ankylosis Of Hand Joint	Ankylosis Of Joint Of Ankle And/Or Foot
Ankylosis Of Joint Of Forearm	Ankylosis Of Joint Of Hand
Ankylosis Of Joint Of Lower Leg	Ankylosis Of Joint Of Multiple Sites
Ankylosis Of Joint Of Pelvic Region And Thigh	Ankylosis Of Joint Of Shoulder Region
Ankylosis Of Joint Of Upper Arm	Ankylosis Of Lower Leg Joint
Ankylosis Of Multiple Joints	Ankylosis Of Upper Arm Joint
Infectious Arthropathy	Joint Ankylosis Of The Ankle And Foot
Joint Ankylosis Of The Ankle And/Or Foot	Joint Ankylosis Of The Forearm
Joint Ankylosis Of The Hand	Joint Ankylosis Of The Lower Leg
Joint Ankylosis Of The Pelvic Region And Thigh	Joint Ankylosis Of The Shoulder Region
Joint Ankylosis Of The Upper Arm	Joint Diseases
Joint Disease	Arthropathy Associated With Infection

Hyperostosis

Hypertrophy Of Bone	Bone Hypertrophy
Bone Thickening	Periosteum Thickening

Calcinosis

Pathologic Calcification

Pathologically Calcified Structure

Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

Craniodiaphyseal Dysplasia

CDD	Schaefer Stein Oshman Syndrome
Craniodiaphyseal Dysplasia, Dominant	Dominantly Inherited Craniodiaphyseal Dysplasia

Pseudoxanthoma Elasticum

PXE	Gronblad-Strandberg Syndrome
Pseudoxanthoma Elasticum, Modifier Of Severity Of	Gronblad-Strandberg-Touraine Syndrome
Gronblad Strandberg Syndrome	Groenblad-Strandberg Syndrome
Nevus Elasticus	Pxe - [Pseudoxanthoma Elasticum]

Spondyloarthropathy 1

Ankylosing Spondylitis	Spondyloarthropathy, Susceptibility To, 1
SPDA1	Marie-Strumpell Spondylitis
Bechterew Syndrome	Spa
Spondylarthritis Ankylopoietica	Reiter Syndrome
Ankylosing Spondylitis, Susceptibility To	Bekhterev Syndrome
Bekhterev'S Disease	Marie-Strumpell Disease
Axial Spondylarthritis	Bechterew Disease
Marie-Struempell Disease	Spondylitis Ankylopoietica
Spondyloarthritis	Spondyloarthritis Ankylopoietica
Spas	Ankylosing Spondylarthritis
Psoriatic Arthritis	Reactive Arthritis
Rheumatoid Spondylitis	Spondylitis Ankylosans
Spondylitis Ankylosing	Spondylitis, Ankylosing
Spondylarthropathies	Arthritis, Psoriatic
Arthritis, Reactive

Craniosynostosis

Premature Closure Of Cranial Sutures	Craniostenosis
Craniosynostosis Syndrome	Cso
Craniosynostoses	Congenital Ossification Of Cranial Sutures
Congenital Ossification Of Sutures Of Skull	Craniostosis
Imperfect Fusion Of Skull	Congenital Imperfect Closure Skull
Imperfect Closure Skull	Premature Closure Cranium Sutures
Deficiency Of Craniofacial Axis

Arterial Calcification Of Infancy

Idiopathic Infantile Arterial Calcification	Generalized Arterial Calcification Of Infancy
Iiac	Occlusive Infantile Arteriopathy
Infantile Arteriosclerosis	Gaci
Idiopathic Obliterative Arteriopathy	Generalized Arterial Calcification In Infancy
Arteriopathia Calcificans Infantum	Diffuse Arterial Calcifying Elastopathy Of Infancy
Infantile Calcifying Arteriopathy	Medial Coronary Sclerosis Of Infancy
Coronary Sclerosis, Medial, Of Infancy	Calcification, Arterial, Generalized, Infancy

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Hypophosphatasia, Adult

Adult Hypophosphatasia	Odontohypophosphatasia
Hypophosphatasia, Mild	HPPA
Hypophosphatasia	Mild Hypophosphatasia
Adult Rathbun Disease	Adult Phosphoethanolaminuria
HOPS

Calcification Of Joints And Arteries

Hereditary Arterial And Articular Multiple Calcification Syndrome	CALJA
Arterial Calcification Due To Cd73 Deficiency	Arterial Calcification Due To Deficiency Of Cd73
Acdc	Arterial Calcification And Distal Joint Calcification
Arterial Calcification Due To Deficiency Of Cd73:Acdc	Calcification Of Joints And Arteries
Calja

Camurati-Engelmann Disease

Progressive Diaphyseal Dysplasia	Ced
Engelmann Disease	Diaphyseal Dysplasia 1, Progressive
Pdd	Diaphyseal Dysplasia
Dpd1	Camurati-Engelmann Syndrome
CAEND	Engelman'S Disease
Diaphyseal Hyperostosis	Diaphyseal Osteosclerosis

Syndactyly, Type Iii

Syndactyly Type 3	SDTY3
Ring And Little Finger Syndactyly	Syndactyly Of Fingers Iv And V
Syndactyly Of Fingers 4 And 5	Ringand Little Finger Syndactyly
Syndactyly Of Fingers Four And Five	Syndactyly Of The Ring And Little Finger
Sd3	Syndactyly 3
Syndactyly Type Iii	4-5 Finger Syndactyly
Syndactyly, Type 3

Hypophosphatasia

Phosphoethanolaminuria	Childhood Hypophosphatasia
Deficiency Of Alkaline Phosphatase	Hypophospatasia, Childhood
Hypophosphatasia Mild	Phosphoethanol-Aminuria
Rathburn Disease	Hpp
Rathbun Disease	Hypophosphatasia, Childhood
Infantile Hypophosphatasia

Facial Paralysis

Facial Palsy

Bell Palsy

Facial Nerve Disease

Facial Nerve Disorder	Facial Nerve Diseases
Neuropathy Of Facial Nerve	Disorders Of 7th Cranial Nerve
Disorders Of The Seventh Cranial Nerve

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-RS00706	ANKH Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ANKH	VGNC	VGNC:25901
Rattus norvegicus	ANKH	RGD	RGD:619925
Felis catus	ANKH	VGNC	VGNC:102158
Macaca mulatta	ANKH	VGNC	VGNC:69612
Canis familiaris	ANKH	VGNC	VGNC:50869
Mus musculus	ANKH	MGD	MGI:3045421

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