1. Gene
  2. STARD6 - StAR related lipid transfer domain containing 6 Gene

STARD6 - StAR related lipid transfer domain containing 6 Gene

Homo sapiens
Gene ID: 147323 | Gene type: protein coding

About STARD6

Cytogenetic location: 18q21.2 Genomic coordinates (GRCh38): 18:54,324,492-54,357,858 (from NCBI)

This gene has 6 transcripts (splice variants), 114 orthologues and 5 paralogues. Restricted expression toward testis (RPKM 7.1).

Summary

Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in Cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD6 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]

STARD6 Products(4)

mRNA Protein Name
NM_001371101.1 NP_001358030.1 stAR-related lipid transfer protein 6 isoform 2
NM_001371102.1 NP_001358031.1 stAR-related lipid transfer protein 6 isoform 2
NM_001394379.1 NP_001381308.1 stAR-related lipid transfer protein 6 isoform 3
NM_139171.2 NP_631910.1 stAR-related lipid transfer protein 6 isoform 1

STARD6 Protein Structure

START

START: START domain (13 - 196)

  • 0
  • 100
  • 200
  • 220 a.a.
Protein Preferred Names Protein Names

stAR-related lipid transfer protein 6

START domain containing 6

Related Diseases

Diseases Alias
Blount'S Disease

Blount Disease

Tibia Vara

Osteochondrosis Deformans Tibiae

Osteochondrosis Deformans Tibiae, Familial Infantile Type

Familial Infantile Type Osteochondrosis Deformans Tibiae

Blount-Barber Syndrome

Erlacher-Blount Syndrome

Infantile Tibia Vara

Tibia Vara Blount

Blount Disease, Infantile

Vertigo, Benign Recurrent

Benign Paroxysmal Positional Vertigo

Bppv

Vestibulopathy, Familial

BRV

Vertigo, Benign Paroxysmal Positional

Benign Paroxysmal Positional Nystagmus

Benign Recurrent Vertigo

Familial Benign Recurrent Vertigo

Familial Vestibulopathy

Benign Paroxysmal Nystagmus

Bppv - [Benign Positional Paroxysmal Vertigo]

Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

Congenital Lipoid Adrenal Hyperplasia

Lipoid Cah

Lipoid Adrenal Hyperplasia

Adrenal Hyperplasia 1

Cah

Clah

LCAH

Adrenal Hyperplasia I

Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

Congenital Adrenal Hyperplasia Lipoid

Adrenal Hyperplasia, Congenital

Congenital Adrenal Hyperplasia, Lipoid

AH1

Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

Adrenal Hyperplasia Congenital

Hyperplasia, Adrenal, Lipoid, Congenital

Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

Congenital Adrenal Cortical Hyperplasia

Congenital Adrenal Gland Hyperplasia

Congenital Adrenogenital Syndrome

Congenital Hyperadrenocorticism

Congenital Adrenogenitalism

Congenital Female Adrenal Pseudohermaphroditism

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
Macaca mulatta STARD6 VGNC VGNC:77950
Felis catus STARD6 VGNC VGNC:65756
Mus musculus STARD6 MGD MGI:2156774
Canis familiaris STARD6 VGNC VGNC:46886
Bos taurus STARD6 VGNC VGNC:35367
Rattus norvegicus STARD6 RGD RGD:1359639