1. Gene
  2. DHH - desert hedgehog signaling molecule Gene

DHH - desert hedgehog signaling molecule Gene

Homo sapiens

Also known as GDMN; GDXYM; HHG-3; SRXY7

Gene ID: 50846 | Gene type: protein coding

About DHH

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:49,086,656-49,094,801 (from NCBI)

This gene has 1 transcript (splice variant), 291 orthologues, 2 paralogues and is associated with 4 phenotypes. Biased expression in testis (RPKM 5.9) and appendix (RPKM 0.3).

Summary

This gene encodes a member of the Hedgehog family. The Hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a Cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. [provided by RefSeq, May 2010]

DHH Products(1)

mRNA Protein Name
NM_021044.4 NP_066382.1 desert hedgehog protein preproprotein

DHH Protein Structure

HH_signal

HH_signal: Hedgehog amino-terminal signalling domain (23 - 185)

Hint

Hint: Hint module (188 - 394)

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  • 396 a.a.
Protein Preferred Names Protein Names

desert hedgehog protein

Recombinant DHH Proteins

Cat. No. Product Name Accession Purity
HY-P7338 DHH Protein, Human (C23II) O43323 (G24-G198, C23II) ≥95%
HY-P700253 DHH Protein, Human (His-GST, Myc) O43323 (G51-K158) ≥95%

Related Diseases

Diseases Alias
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy

46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome

GDMN

46xy Gonadal Dysgenesis With Minifascicular Neuropathy

46,Xy Sex Reversal 7

SRXY7

46,Xy Sex Reversal, Partial Or Complete, Dhh-Related

46,Xy Gonadal Dysgenesis, Partial Or Complete, Dhh-Related

Gdxym

Gonadal Dysgenesis, Xy, Male-Limited

46xy Sex Reversal 7

Gonadal Dysgenesis, Xy, Male Limited

Complete Pure Gonadal Dysgenesis 46,Xy Type

Male-Limited Gonadal Dysgenesis 46,Xy

46,Xy Gonadal Dysgenesis, Complete Or Partial, Dhh-Related

46,Xy Sex Reversal

Swyer Syndrome

Pure Gonadal Dysgenesis 46,Xy

Gonadal Dysgenesis, Xy Female Type

Gonadal Dysgenesis, 46,Xy

46,Xy Cgd

46,Xy Complete Gonadal Dysgenesis

46,Xy Pure Gonadal Dysgenesis

46 Xy Gonadal Dysgenesis

46, Xy Cgd

46, Xy Complete Gonadal Dysgenesis

46, Xy Pure Gonadal Dysgenesis

Xy Pure Gonadal Dysgenesis

Female With 46,Xy Karyotype

Xy Females

Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome

Polyneuropathy

Polyneuropathies

Acrocapitofemoral Dysplasia

ACFD

Dysplasia, Acrocapitofemoral

Disorder Of Sexual Development

Disorder Of Sex Development

Disorders Of Sex Development

Sex Development Disorder

Sex Differentiation Disease

Dsd

Sex Differentiation Disorders

Plexiform Neurofibroma

Neurofibroma Plexiform

Neurofibroma, Plexiform

Brachydactyly, Type A1

Brachydactyly Type A1

BDA1

Farabee-Type Brachydactyly

Farabee Type Brachydactyly

Brachydactyly Farabee Type

Brachydactyly, Farabee Type

Brachydactyly A1

Brachydactyly

Basal Cell Nevus Syndrome

Nevoid Basal Cell Carcinoma Syndrome

Gorlin Syndrome

Nbccs

BCNS

Gorlin-Goltz Syndrome

Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies

Cerebral Gigantism Jaw Cysts

Cramer Niederdellmann Syndrome

Gorlin Syndrome Or Gorlin-Goltz Syndrome

Naevoid Basal Cell Carcinoma Syndrome

Petrous Apex Meningioma

Meningioma Of The Petrous Ridge

46,Xx Sex Reversal

46,Xx Testicular Disorder Of Sex Development

46,Xx Testicular Dsd

De La Chapelle Syndrome

Srxx

Xx, Male Syndrome

46, Xx Testicular Disorders Of Sex Development

Greig Cephalopolysyndactyly Syndrome

GCPS

Polysyndactyly With Peculiar Skull Shape

Polysyndactyly With Peculiars Skull Shape

Greig Syndrome

Cephalopolysyndactyly Syndrome

Greig Cephalo-Poly-Syndactyly Syndrome

Cephalopolysyndactyly, Greig Syndrome

Aarskog Syndrome

45,X/46,Xy Mixed Gonadal Dysgenesis

45,X/46,Xy Mgd

45,X0/46,Xy Mgd

45,X0/46,Xy Mixed Gonadal Dysgenesis

Holoprosencephaly 7

HPE7

Holoprosencephaly-7

Holoprosencephaly, Type 7

Pallister-Hall Syndrome

PHS

Hypothalamic Hamartomas

Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly

Hypothalamic Hamartoblastoma Syndrome

Hamartoma Of The Hypothalamus

Pallister Hall Syndrome

Hall-Pallister Syndrome

Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly

Hamartoma, Hypothalamic

Joubert Syndrome 32

JBTS32

Pseudohermaphroditism

Indeterminate Sex And Pseudohermaphroditism

Infratentorial Cancer

Infratentorial Neoplasms

Brain Neoplasm, Infratentorial

Malignant Infratentorial Tumors

Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

Basal Cell Carcinoma

Basal Cell Cancer

Basal Cell Neoplasm

Basal Cell Carcinoma Of Skin

Malignant Basal Cell Tumor

Basal Cell Tumor

Epithelioma Basal Cell

Malignant Basal Cell Neoplasm

Rodent Ulcer

Carcinoma Basal Cell

Neoplasms, Basal Cell

Basal Cell Carcinomas

Experimental Organism Basal Cell Carcinoma

Nodulo-Ulcerative Basal Cell Carcinoma

Basalioma

Basal Cell Epithelioma Of Skin

Bcc - [Basal Cell Carcinoma] Of Skin

Rodent Ulcer Of Skin

Rodent Ulcer Of Unspecified Site

Basal Cell Epithelioma Of Unspecified Site

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes

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

Orthologs Information

Species Symbol Source ID
Bos taurus DHH VGNC VGNC:28037
Canis familiaris DHH VGNC VGNC:39930
Mus musculus DHH MGD MGI:94891
Rattus norvegicus DHH RGD RGD:620711
Macaca mulatta DHH VGNC VGNC:71794
Others DHH NCBI