ANKH

Chr 5p15.2

ANKH inorganic pyrophosphate transport regulator

Aliases:: HANK, ANK, CPPDD, SLC62A1
MANE:: ENST00000284268.8

OMIM: 605145 ↗NCBI: 56172 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ANKH · Q9HCJ1

v62025-08-01

Predicted Aligned Error matrix for ANKH — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.4/ 100

Confident

492 residues

Confidence breakdown

Very high(≥ 90)44%
Confident(70–90)45%
Low(50–70)5%
Very low(< 50)6%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Osteopetrosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis imperfecta

Disease associations (Open Targets)

craniometaphyseal dysplasia
0.77
chondrocalcinosis 2
0.77
type 2 diabetes mellitus
0.55
diabetes mellitus
0.55
glaucoma
0.45
open-angle glaucoma
0.45
diabetic retinopathy
0.44
diabetic neuropathy
0.41
chondrocalcinosis
0.38
alcohol drinking
0.33

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Mineralization regulator ANKH

Transports adenosine triphosphate (ATP) and possibly other nucleoside triphosphates (NTPs) from cytosol to the extracellular space. Mainly regulates their levels locally in peripheral tissues while playing a minor systemic role. Prevents abnormal ectopic mineralization of the joints by regulating the extracellular levels of the calcification inhibitor inorganic pyrophosphate (PPi), which originates from the conversion of extracellular NTPs to NMPs and PPis by ENPP1 (PubMed:20943778, PubMed:32639996, PubMed:35147247). Regulates the release of the TCA cycle intermediates to the extracellular space, in particular citrate, succinate and malate. Extracellular citrate mostly present in bone tissue is required for osteogenic differentiation of mesenchymal stem cells, stabilization of hydroxyapatite structure and overall bone strength (PubMed:32639996). The transport mechanism remains to be elucidated (Probable)